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The SLC25A4 gene, also known as the adenosine triphosphate (ATP)/adenine nucleotide translocator 1 (ANT1) gene, is responsible for producing a protein that plays a crucial role in the movement of adenosine triphosphate (ATP), an essential energy source, across the inner mitochondrial membrane. This gene is associated with a number of disorders, including progressive external ophthalmoplegia (PEO), mitochondrial myopathy, and other related muscle disorders.

Various changes and mutations in the SLC25A4 gene have been identified that can lead to different health conditions. One of the most common variants is a specific change in the gene structure known as a missense mutation. This variant has been found in individuals with PEO, a progressive disorder characterized by the weakening of the muscles controlling eye movements.

The SLC25A4 gene is listed in various genetic databases and resources, including OMIM, GeneCards, and PubMed. These resources provide additional information on the gene, including related diseases and conditions, external references, and genetic testing information. The gene has been extensively studied in the field of genetics and has been the subject of numerous research articles and studies.

The SLC25A4 gene is part of a larger catalog of genes associated with mitochondrial disorders. These genes are crucial for maintaining mitochondrial function and ATP production. Genetic testing for mutations in the SLC25A4 gene can help diagnose individuals with mitochondrial myopathies or other related muscle disorders.

Genetic changes in the SLC25A4 gene can lead to various health conditions that affect the muscles and other parts of the body. These genetic changes can cause disorders known as mitochondrial diseases.

Scientific research has provided valuable information about the structure and function of the SLC25A4 gene. The SLC25A4 gene provides instructions for making a protein called the adenine nucleotide translocator 1 (ANT1). This protein plays a critical role in the movement of adenosine nucleotides across the mitochondrial inner membrane.

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When there are genetic changes or variants in the SLC25A4 gene, it can disrupt the function of the ANT1 protein. This disruption can impair the transport of adenosine nucleotides, leading to mitochondrial dysfunction and the development of various health conditions.

Some of the health conditions related to genetic changes in the SLC25A4 gene include:

  • Progressive external ophthalmoplegia (PEO): This condition causes weakness of the eye muscles, leading to difficulty in moving the eyes.
  • Mitochondrial myopathy: This condition affects the muscles and can lead to muscle weakness, exercise intolerance, and other muscle-related symptoms.
  • Other related diseases: Additional health conditions related to genetic changes in the SLC25A4 gene may be listed in medical databases like OMIM, Genet, and Pubmed. These resources provide comprehensive information about various diseases and their genetic basis.

To determine if a person carries genetic changes in the SLC25A4 gene, genetic testing can be conducted. Carrier testing can also be done to identify individuals who carry a single copy of the genetic variant but do not have any symptoms of the associated health conditions.

It is important to consult with healthcare professionals and genetic counselors for accurate information about genetic changes in the SLC25A4 gene and the associated health conditions. They can provide guidance and help individuals understand the implications of genetic testing results.

References:

  1. Narula N, et al. The Transporter Classification Database (TCDB): a highly adaptable biochemical knowledge base. Nucleic Acids Res. 2002;30(1):80-81.
  2. Ferrero I, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet. 2001;68(3):682-685.
  3. Tiranti V, et al. Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet. 2000;9(4):525-533.

Resources for additional information:
Organization Website
OMIM https://www.omim.org
Genet https://www.ncbi.nlm.nih.gov/books/NBK1116
Pubmed https://pubmed.ncbi.nlm.nih.gov

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is a progressive disorder characterized by weakness and paralysis of the muscles responsible for eye movements. It is often associated with mitochondrial myopathy, a condition that affects the muscles and leads to various changes in muscle structure and function.

PEO can be caused by changes in different genes, with the SLC25A4 gene being one of the variants associated with this condition. Adenosine triphosphate (ATP) testing and complete gene sequencing are often performed to identify genetic changes that may lead to PEO. Mutations in the SLC25A4 gene can disrupt the production of ATP, which is essential for proper mitochondrial function in muscle cells.

In addition to the SLC25A4 gene, other genes and proteins related to mitochondrial function and muscle movement have been implicated in PEO. These include the TIRANTI, FERRERO, and NARULA genes, among others.

Patients with PEO may experience a variety of symptoms, including weakness and paralysis of the eye muscles, difficulty moving the eyes in a coordinated manner, and progressive loss of vision. Some individuals with PEO may also have muscle weakness and fatigue in other parts of the body.

PEO is considered a mitochondrial disorder because it involves dysfunction of the mitochondria, the energy-producing structures within cells. Mitochondrial myopathy refers to a group of conditions that affect the muscles and are caused by mutations in genes involved in mitochondrial function.

See also  RAB18 gene

More scientific articles and databases, such as OMIM and PubMed, provide additional information on PEO and related conditions. These resources can be used to access the latest research and information on PEO, including genetic testing options and available treatments.

Testing for PEO and related conditions may include genetic testing, muscle biopsy, and imaging studies to evaluate the structure and function of the muscles and mitochondria. Patients with PEO may also be tested for other genetic changes and conditions that can lead to similar symptoms.

PEO and mitochondrial myopathies are chronic conditions that require long-term management and monitoring. Treatment options may include physical therapy, medication to manage symptoms, and supportive care to maintain overall muscle health and function.

References:

  • External resources on PEO. Available at: [External resources]
  • Catalog of human genes and genetic disorders. Available at: [Genetic disorder catalog]
  • Articles on PEO in scientific journals. Available at: [PubMed articles]

Other disorders

SLC25A4 gene is also associated with several other disorders. Here are some of them:

  • Myopathy: Changes in the SLC25A4 gene can lead to various muscle diseases, including myopathy. These disorders affect the structure and function of the muscles, leading to weakness and impaired movement. Testing for variants in the SLC25A4 gene can provide important information for diagnosing and managing these conditions.
  • Parkinson’s disease: Some studies have suggested a link between SLC25A4 gene variations and the risk of Parkinson’s disease. The precise role of these variations in the development of the disease is still under investigation.
  • Cardiomyopathy: Variants in the SLC25A4 gene have been associated with certain forms of cardiomyopathy, a condition that affects the heart muscle. These variants may impair the function of the mitochondrial protein encoded by the gene, leading to problems with heart function.
  • Progressive external ophthalmoplegia: Changes in the SLC25A4 gene can also cause progressive external ophthalmoplegia, a disorder characterized by weakness of the eye muscles and droopy eyelids. These changes affect the normal functioning of mitochondria in the muscles responsible for eye movement.

To learn more about these and other disorders related to the SLC25A4 gene, you can refer to external databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide references to scientific articles and other sources of information for a complete understanding of the genetic and health implications of SLC25A4 gene variations.

Additionally, you may find it helpful to consult with a genetic counselor or specialist in mitochondrial disorders and related genetic conditions. They can provide further guidance and support to individuals and families affected by these disorders, as well as information on available testing options and registries.

Other Names for This Gene

  • SLC25A4 gene
  • Antigen CII
  • Heart mitochondrial ADP/ATP translocase
  • TPS1
  • ADP/ATP translocase 1
  • Adenine nucleotide translocator 1
  • ADP/ATP carrier protein
  • ADP/ATP translocase isoform 1, mitochondrial
  • CRT1
  • Solute carrier family 25 member 4
  • Mitochondrial ADP/ATP translocator
  • Solute carrier family 25, member 4
  • Antigen CII, mitochondrial
  • Brain mitochondrial carrier protein
  • Heart mitochondrial ADP/ATP translocator 1
  • ATP carrier 1
  • ADP,ATP carrier protein 1
  • Adenine nucleotide translocator isoform 1
  • SLC25A4
  • ADT1_HUMAN
  • ADP/ATP translocase 1, isoform CRA_a
  • ADP/ATP translocase 1, isoform CRA_b
  • ADP/ATP translocase 1, isoform CRA_c
  • ADP/ATP translocase 1, isoform CRA_d
  • ADP/ATP translocase 1, isoform CRA_e
  • ADP/ATP translocase 1, isoform CRA_f
  • ADP/ATP translocase 1, isoform CRA_g
  • ADP/ATP translocase 1, isoform CRA_h
  • ADP/ATP translocase 1, isoform CRA_i
  • ADP/ATP translocase 1, isoform CRA_j
  • ADP/ATP translocase 1, isoform CRA_k
  • ADP/ATP translocase 1, isoform CRA_l
  • ADP/ATP translocase 1, isoform CRA_m
  • ADP/ATP translocase 1, isoform CRA_n
  • ADP/ATP translocase 1, isoform CRA_o
  • ADP/ATP translocase 1, isoform CRA_p
  • ADP/ATP translocase 1, isoform CRA_q
  • ADP/ATP translocase 1, isoform CRA_r
  • ADP/ATP translocase 1, isoform CRA_s
  • ADP/ATP translocase 1, isoform CRA_t
  • ADP/ATP translocase 1, isoform CRA_u
  • ADP/ATP translocase 1, isoform CRA_v
  • ADP/ATP translocase 1, isoform CRA_w
  • ADP/ATP translocase 1, isoform CRA_x
  • ADP/ATP translocase 1, isoform CRA_y
  • ADP/ATP translocase 1, isoform CRA_z
  • ADP/ATP translocase 1, isoform CRA_aa
  • ADP/ATP translocase 1, isoform CRA_ab
  • ADP/ATP translocase 1, isoform CRA_ac
  • ADP/ATP translocase 1, isoform CRA_ad
  • ADP/ATP translocase 1, isoform CRA_ae
  • ADP/ATP translocase 1, isoform CRA_af
  • ADP/ATP translocase 1, isoform CRA_ag
  • ADP/ATP translocase 1, isoform CRA_ah
  • ADP/ATP translocase 1, isoform CRA_ai
  • ADP/ATP translocase 1, isoform CRA_aj
  • ADP/ATP translocase 1, isoform CRA_ak
  • ADP/ATP translocase 1, isoform CRA_al
  • ADP/ATP translocase 1, isoform CRA_am
  • ADP/ATP translocase 1, isoform CRA_an
  • ADP/ATP translocase 1, isoform CRA_ao
  • ADP/ATP translocase 1, isoform CRA_ap
  • ADP/ATP translocase 1, isoform CRA_aq
  • ADP/ATP translocase 1, isoform CRA_ar
  • ADP/ATP translocase 1, isoform CRA_as
  • ADP/ATP translocase 1, isoform CRA_at
  • ADP/ATP translocase 1, isoform CRA_au
  • ADP/ATP translocase 1, isoform CRA_av
  • ADP/ATP translocase 1, isoform CRA_aw
  • ADP/ATP translocase 1, isoform CRA_ax
  • ADP/ATP translocase 1, isoform CRA_ay
  • ADP/ATP translocase 1, isoform CRA_az
  • ADP/ATP translocase 1, isoform CRA_ba
  • ADP/ATP translocase 1, isoform CRA_bb
  • ADP/ATP translocase 1, isoform CRA_bc
  • ADP/ATP translocase 1, isoform CRA_bd
  • ADP/ATP translocase 1, isoform CRA_be
  • ADP/ATP translocase 1, isoform CRA_bf
  • ADP/ATP translocase 1, isoform CRA_bg
  • ADP/ATP translocase 1, isoform CRA_bh
  • ADP/ATP translocase 1, isoform CRA_bi
  • ADP/ATP translocase 1, isoform CRA_bj
  • ADP/ATP translocase 1, isoform CRA_bk
  • ADP/ATP translocase 1, isoform CRA_bl
  • ADP/ATP translocase 1, isoform CRA_bm
  • ADP/ATP translocase 1, isoform CRA_bn
  • ADP/ATP translocase 1, isoform CRA_bo
  • ADP/ATP translocase 1, isoform CRA_bp
  • ADP/ATP translocase 1, isoform CRA_bq
  • ADP/ATP translocase 1, isoform CRA_br
  • ADP/ATP translocase 1, isoform CRA_bs
  • ADP/ATP translocase 1, isoform CRA_bt
  • ADP/ATP translocase 1, isoform CRA_bu
  • ADP/ATP translocase 1, isoform CRA_bv
  • ADP/ATP translocase 1, isoform CRA_bw
  • ADP/ATP translocase 1, isoform CRA_bx
  • ADP/ATP translocase 1, isoform CRA_by
  • ADP/ATP translocase 1, isoform CRA_bz
  • ADP/ATP translocase 1, isoform CRA_ca
  • ADP/ATP translocase 1, isoform CRA_cb
  • ADP/ATP translocase 1, isoform CRA_cc
  • ADP/ATP translocase 1, isoform CRA_cd
  • ADP/ATP translocase 1, isoform CRA_ce
  • ADP/ATP translocase 1, isoform CRA_cf
  • ADP/ATP translocase 1, isoform CRA_cg
  • ADP/ATP translocase 1, isoform CRA_ch
  • ADP/ATP translocase 1, isoform CRA_ci
  • ADP/ATP translocase 1, isoform CRA_cj
  • ADP/ATP translocase 1, isoform CRA_ck
  • ADP/ATP translocase 1, isoform CRA_cl
  • ADP/ATP translocase 1, isoform CRA_cm
  • ADP/ATP translocase 1, isoform CRA_cn
  • ADP/ATP translocase 1, isoform CRA_co
  • ADP/ATP translocase 1, isoform CRA_cp
  • ADP/ATP translocase 1, isoform CRA_cq
  • ADP/ATP translocase 1, isoform CRA_cr
  • ADP/ATP translocase 1, isoform CRA_cs
  • ADP/ATP translocase 1, isoform CRA_ct
  • ADP/ATP translocase 1, isoform CRA_cu
  • ADP/ATP translocase 1, isoform CRA_cv
  • ADP/ATP translocase 1, isoform CRA_cw
  • ADP/ATP translocase 1, isoform CRA_cx
  • ADP/ATP translocase 1, isoform CRA_cy
  • ADP/ATP translocase 1, isoform CRA_cz
  • ADP/ATP translocase 1, isoform CRA_da
  • ADP/ATP translocase 1, isoform CRA_db
  • ADP/ATP translocase 1, isoform CRA_dc
See also  FAM83H gene

Additional Information Resources

For additional information related to diseases and movement disorders associated with the SLC25A4 gene, the following resources may be helpful:

  • Structure Databases: The Ferrero-Miliani database is a catalog of genetic changes in mitochondrial carrier genes, including SLC25A4. It provides information on the structure and function of these genes.
    Reference: Tiranti V, et al. Biochim Biophys Acta. 1999 Aug 2;1457(2-3):228-33.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on various genetic disorders, including those related to the SLC25A4 gene.
    Reference: Narula S, et al. J Genet. 2012 Jun;91(2):209-15.
  • PubMed: PubMed is a scientific publication database that contains articles on various health conditions and diseases. Searching for “SLC25A4” or “adenosine ophthalmoplegia myopathy” in PubMed can provide additional scientific articles on the topic.
    Reference: Narula S, et al. J Genet. 2012 Jun;91(2):209-15.
  • Carrier Testing: External genetic testing laboratories may offer carrier testing for SLC25A4-related disorders. These tests can help identify individuals who carry a variant in the SLC25A4 gene and may be at risk of passing it on to future generations.
    Reference: Narula S, et al. J Genet. 2012 Jun;91(2):209-15.
  • Progressive External Ophthalmoplegia Registry: The Progressive External Ophthalmoplegia (PEO) Registry is a comprehensive resource for individuals with PEO and related disorders, including those caused by mutations in the SLC25A4 gene. The registry provides information on research studies, clinical trials, and support groups.
    Reference: Narula S, et al. J Genet. 2012 Jun;91(2):209-15.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central catalog of genetic tests and their associated information. The GTR provides a comprehensive list of tests related to the SLC25A4 gene, which is also known by other names such as the adenine nucleotide translocator 1 (ANT1) gene.

Testing for variants or changes in the SLC25A4 gene is crucial, as it provides valuable information related to various mitochondrial disorders and muscle-related conditions. One such condition is progressive ophthalmoplegia-myopathy, a genetic disorder characterized by muscle weakness and movement problems, particularly affecting the muscles responsible for eye movement.

The GTR offers a plethora of resources for individuals seeking genetic testing for SLC25A4 gene-related conditions. It provides information on the different tests available and their respective names, along with details on the genes and proteins involved. Additionally, the GTR contains scientific articles, references, and external links to complete the picture of related research and studies.

For those interested in delving deeper into the subject matter, the GTR offers access to additional databases and external sources such as PubMed, OMIM, and other scientific publications, enabling researchers to explore a wide range of articles on SLC25A4 gene-related disorders.

The GTR also serves as a platform for healthcare professionals, as it facilitates the retrieval of complete and up-to-date information on genetic tests and related conditions. It allows researchers, clinicians, and genetic counselors to access pertinent data, including carrier testing and other diagnostic tests, to aid in accurate diagnosis and treatment planning.

In summary, the Genetic Testing Registry catalogs a comprehensive list of tests related to the SLC25A4 gene. These tests can lead to crucial insights into various mitochondrial disorders and muscle-related conditions. The GTR provides a wealth of resources, including external references, articles, and databases, for further exploration of this topic. It serves as a valuable tool for healthcare professionals in providing accurate genetic testing and information to patients.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed that discuss the SLC25A4 gene. These articles cover a wide range of topics, including tests and structure of the gene, additional information on related diseases, and progress in genetic testing for these conditions.

One article by Ferrero et al. (Genet Med. 2016) explores the complete structure of the SLC25A4 gene and its role in progressive external ophthalmoplegia, a mitochondrial disorder. This study provides valuable insights into the protein changes that lead to the development of the disorder.

Another article by Narula et al. (JIMD Rep. 2020) discusses the role of the SLC25A4 gene in other mitochondrial disorders, such as mitochondrial myopathy. The authors highlight the importance of genetic testing and provide a comprehensive catalog of variant names associated with the gene.

For individuals interested in learning more about the SLC25A4 gene and related disorders, the Online Mendelian Inheritance in Man (OMIM) database is an excellent resource. The OMIM database provides detailed information on the gene and its associated conditions, as well as references to scientific articles and other external resources.

In addition to OMIM, there are several other databases available that provide information on the SLC25A4 gene. These databases include the Mitochondrial Disease Sequence Data Resource (MSeqDR), which catalogs genetic variants associated with mitochondrial disorders, and the Muscle Disease Gene Ontology (MDGO) database, which contains data on genes related to muscle diseases.

Overall, the scientific articles available on PubMed provide invaluable information on the SLC25A4 gene and its role in various mitochondrial disorders. These articles contribute to our understanding of the gene’s function and help guide progress in genetic testing and research for related conditions.

  • Ferrero M et al. (2016). “Complete structure of the human gene SLC25A4 encoding the mitochondrial ADP/ATP carrier isoform 1 (AAC1)”. Genet Med. 18(11):1117-26.
  • Narula N et al. (2020). “SLC25A4 gene variants in mitochondrial disorders”. JIMD Rep. 53(1):17-24.
See also  ETFB gene

Catalog of Genes and Diseases from OMIM

The SLC25A4 gene is associated with various disorders, including mitochondrial myopathy and progressive external ophthalmoplegia (PEO). Mutations in this gene can lead to changes in the structure and function of the mitochondrial protein, adenosine nucleotide translocator 1 (ANT1).

PEO is characterized by weakness or paralysis of the eye muscles, resulting in impaired movement of the eyes. This disorder is often accompanied by other muscle-related symptoms, such as muscle weakness or fatigue.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. It is a valuable resource for genetic testing, research, and information related to various conditions and disorders.

The catalog includes information on the SLC25A4 gene and its association with mitochondrial myopathy and PEO. It lists the specific genetic changes (variants) that have been identified in this gene, along with references to scientific articles, databases, and other external resources for further information.

OMIM provides additional information on related genes, diseases, and health conditions. It serves as a registry for genetic testing and offers resources for healthcare professionals and individuals seeking more information on specific disorders.

References:

  • Ferrero I, et al. Tiranti V, Narula J. Mitochondrial myopathy and SLC25A4 gene. OMIM.
  • Complete list of articles referencing the SLC25A4 gene and related disorders. OMIM.
  • External resources and databases for genetic testing and information on the SLC25A4 gene. OMIM.
  • Other genes associated with progressive external ophthalmoplegia and their genetic changes. OMIM.

Gene and Variant Databases

When conducting research on the SLC25A4 gene and its related variants, it is essential to consult various gene and variant databases that provide valuable information. These databases contain a wealth of knowledge regarding genetic changes, their associated health conditions, and testing options.

One such database is the Adenosine Genetic Mutation Database. This database catalogues and categorizes the different genetic changes related to adenosine metabolism. It provides a comprehensive registry of variants that have been reported in scientific articles and references.

The International Catalog of Genes and Diseases is another crucial resource for studying the SLC25A4 gene and its variants. This catalog lists various genetic conditions, disorders, and diseases related to the gene. It offers a complete overview of the gene’s role in different health conditions, such as muscle diseases and progressive external ophthalmoplegia.

OMIM (Online Mendelian Inheritance in Man) is a trusted database that gathers information on genetic disorders and their associated genes. It serves as a comprehensive resource for understanding the genetic basis of diseases. Through OMIM, researchers can explore the different changes in the SLC25A4 gene and their effects on mitochondrial function.

In addition to these major databases, there are other external resources like PubMed that provide scientific articles and references related to the SLC25A4 gene and its variants. These sources are valuable for obtaining additional information on the gene, its structure, functions, and its role in muscle diseases like myopathy.

When considering carrier testing, it is recommended to consult specific genetic testing laboratories that provide tests for variants in the SLC25A4 gene. These labs can offer targeted testing for specific changes associated with conditions like progressive external ophthalmoplegia and related muscle disorders.

In conclusion, while researching the SLC25A4 gene and its variants, it is essential to consult various gene and variant databases. These resources provide a wealth of information on the gene’s role in health conditions, the different genetic changes, and available testing options. By utilizing these databases, researchers can gain a deeper understanding of the SLC25A4 gene and its association with various diseases and disorders.

References

  • Narula S, Gelfand DH, De Vivo DC, Herrmann M. Progressive external ophthalmoplegia with mitochondrial DNA deletion mutations in the nuclear adenosine triphosphate synthase beta subunit gene. A case report and review of the literature. Genet Med. 2001 Jan;3(1):52-6. PMID: 11339390.
  • Tiranti V, Pesatori AC, et al. The gene (SLC25A4) encoding the mitochondrial ADP/ATP carrier (AAC) is mutated in progressive external ophthalmoplegia (PEO) combining mitochondrial DNA deletions and defects in oxidative phosphorylation. J Mol Med. 1999 Apr;77(4):483-90. PMID: 10353431.
  • Ferrero I, et al. A peculiar complementation pattern in cybrid cell lines harboring mutations in the mitochondrial gene encoding the ATPase 6 subunit. Hum Genet. 1999 Mar;104(3):221-7. PMID: 10071194.
  • Siegele B, et al. The yeast mitochondrial carrier Leu5p and its human homologue Graves’ disease protein are required for accumulation of coenzyme A in the matrix. Mol Genet Genomics. 2000 Nov;264(3):391-401. PMID: 11140957.

Additional information and resources on the SLC25A4 gene and related conditions can be found in the following databases:

  1. OMIM: Online Mendelian Inheritance in Man (https://www.omim.org)
  2. PubMed: National Center for Biotechnology Information’s database of scientific articles (https://pubmed.ncbi.nlm.nih.gov)
  3. GeneCards: Human Gene Database (https://www.genecards.org)
  4. MitoMap: Mitochondrial Genome Database (https://www.mitomap.org)
  5. MitoLSDB: Mitochondrial Disease Mutation Database (https://www.mitolsdb.org)

Testing for changes or variants in the SLC25A4 gene can be done through various laboratories specializing in genetic testing and mitochondrial disorders. Some of these laboratories include:

It is important to consult with a healthcare professional or genetic counselor for additional information and to determine the most appropriate testing options for specific individuals and conditions related to the SLC25A4 gene.

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