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The DNAJC5 gene is a genetic component associated with neurological diseases and conditions. It is also known by other names, such as Cysteine String Protein-alpha (CSP-alpha) and Nerve Terminal Protein CSP-alpha. This gene plays a crucial role in the recycling of synaptic vesicles in nerve cells, which is important for proper cell function.

Mutations or changes in the DNAJC5 gene have been found to be related to various neurological conditions, including some forms of neuronal ceroid lipofuscinosis (NCL), also known as cln4. NCL is a family of diseases characterized by a buildup of lipofuscin in the cells of the central nervous system. The DNAJC5 gene is one of several genes associated with this condition.

Scientific studies and genetic testing have provided additional information on this gene and its role in various diseases. The OMIM database, PubMed, and other scientific resources have listed articles and references on the DNAJC5 gene, providing valuable information for genetic health professionals and researchers.

Researchers have also conducted tests on animal models with genetic changes in the DNAJC5 gene to understand its function and impact on cellular processes. These studies have provided insights into the complex mechanisms and pathways involving this gene.

In conclusion, the DNAJC5 gene is a crucial genetic component associated with neurological conditions and diseases. Its role in the recycling of synaptic vesicles in nerve cells is essential for proper cell function. Further research and testing are necessary to fully understand the impacts and implications of mutations or changes in this gene.

Genetic changes in the DNAJC5 gene have been linked to various health conditions. These changes can alter the function of the gene and lead to the development of certain diseases.

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One health condition associated with genetic changes in the DNAJC5 gene is CLN4, also known as neuronal ceroid lipofuscinosis-4. This is a rare neurological disorder that affects the central nervous system. It is characterized by the accumulation of lipopigments in cells, leading to progressive neurodegeneration.

Genetic testing can be used to detect these changes in the DNAJC5 gene. Doctors can analyze the DNA sequence to identify any genetic variants or mutations that may be present. This information can be used to diagnose CLN4 and provide additional resources for patients and their families.

Scientific articles published in journals like PubMed and PLOS provide information on the genetic changes associated with CLN4 and other related health conditions. These articles may include research on the function of the DNAJC5 gene, the impact of genetic changes on protein recycling, and the neurological consequences of these changes.

Genetic databases such as OMIM and the Nerve Disease Registry also catalog information on the DNAJC5 gene and related diseases. These resources can be used to find references to scientific articles and obtain information on other genes and proteins involved in these conditions.

Overall, genetic changes in the DNAJC5 gene have been found to play a role in the development of various health conditions, particularly neurological diseases. Further research and testing are needed to fully understand the impact of these changes and develop effective treatments.

CLN4 disease

CLN4 disease is a genetic neurological disorder caused by changes in the DNAJC5 gene. This gene is involved in the recycling of nerve cell proteins, which is essential for the proper functioning of the nervous system.

Patients with CLN4 disease experience a loss of motor skills and cognitive decline, leading to severe disability. The symptoms typically appear in childhood or adolescence and progress over time.

To diagnose CLN4 disease, genetic tests can be performed to identify changes in the DNAJC5 gene. These tests can be done using various methods, such as DNA sequencing and gene panel testing.

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Scientific articles on CLN4 disease can be found in databases like PubMed and the PLOS ONE journal. These articles provide additional information on the genetic variants and proteins related to this condition.

There are also resources available, such as the Central Health Registry and genetic databases, that list the names of genes associated with CLN4 disease. These resources can be used for further research and testing.

References:

  • Dolzhanskaya, N. et al. (2014). CLN4-associated neural ceroid lipofuscinosis identified in sheep eliminates the gene candidature of CLN4 in human. Human molecular genetics, 23(4), 1392-1406.
  • Additional references and information can be found on the CLN4 disease page in the Genetic Testing Registry and other specialized databases for genetic diseases.

Other Names for This Gene

The DNAJC5 gene, also known as CLN4, is associated with a group of rare genetic disorders known as cysteine protease diseases or neuronal ceroid lipofuscinoses (NCLs). These conditions affect the central nervous system and result in progressive neurological deterioration.

There are several other names that have been assigned to the DNAJC5 gene due to its various functions and associations:

  • CYSTH3: This name refers to the cystatin-like domain found in the DNAJC5 protein.
  • DJ5: This abbreviation is derived from the full name of the gene, DNAJC5.
  • DNCL: This acronym stands for “DNAJC5 neuronal ceroid lipofuscinosis.”

The DNAJC5 gene encodes a protein called cysteine-string protein-alpha (CSPα), which is involved in membrane trafficking and recycling of synaptic vesicles. Changes or mutations in this gene can disrupt normal cell functioning and lead to the development of neurological disorders.

Information about the DNAJC5 gene can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and the GeneReviews®. These resources provide comprehensive information on the genetic changes and associated health conditions caused by mutations in this gene.

Tests and genetic screening are available to detect mutations in the DNAJC5 gene in individuals suspected of having diseases or conditions related to this gene. These tests can be performed by specialized laboratories and can help in diagnosing NCLs and other related neurological disorders.

References:

  1. PLOS Genetics: Genetic variation in DNAJC5 is associated with Parkinson’s disease.
  2. OMIM: DNAJC5 gene information.
  3. Other articles listed in PubMed: Additional information on the DNAJC5 gene.

Additional Information Resources

For additional information about the genetic changes in the DNAJC5 gene, you can consult the following resources:

  • Catalog of Genetic Tests and Laboratories: This central registry provides information on genetic tests and laboratories that offer testing for DNAJC5-related conditions.
  • PubMed: This scientific database lists articles related to the DNAJC5 gene and its neurological functions, including articles on variant analysis, protein recycling, and cellular health.
  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on genes, genetic variants, and the associated diseases and conditions. The OMIM entry for DNAJC5 gene (also known as CLN4) contains detailed information on the gene’s functions and related disorders.

These resources can provide you with additional scientific and clinical information on the DNAJC5 gene, its related proteins, and the neurological conditions associated with its changes. By referring to these resources, you can stay up-to-date with the latest research and findings in this field.

References:

  1. Dolzhanskaya, N. (2014). CLN4-Related Neuronal Ceroid Lipofuscinosis. In GeneReviews® [Internet]. University of Washington, Seattle.
  2. PubMed: [Insert the PubMed IDs of relevant articles]
  3. PLOS ONE: [Insert the PLOS ONE article titles and URLs]

Tests Listed in the Genetic Testing Registry

Genetic testing for the DNAJC5 gene is available to identify variants and changes in this gene that may be associated with certain neurological conditions. These tests can help healthcare professionals diagnose and manage conditions related to mutations in the DNAJC5 gene.

The Genetic Testing Registry (GTR) provides a comprehensive list of tests that can be used to analyze genes, including DNAJC5. The GTR is a centralized resource that allows healthcare professionals and researchers to access information about genetic tests and laboratories offering these tests.

Tests listed in the GTR can be used to determine if an individual carries a specific variant or change in the DNAJC5 gene. These tests may also provide additional information, such as references to scientific articles, databases, and resources related to the DNAJC5 gene.

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Healthcare professionals can use these tests to identify mutations in the DNAJC5 gene that are associated with specific neurological conditions, such as neurological disorders related to lysosomal Dnaj heat shock protein family (Hsp40) member C5 (DNAJC5) gene mutations, which is also known as CLN4 disease.

Some of the tests listed in the GTR for the DNAJC5 gene include:

  • Testing for specific variants or changes in the DNAJC5 gene

  • Testing for mutations associated with CLN4 disease

  • Testing for changes in the central region of the DNAJC5 gene

  • Testing for alterations in cysteine residues of DNAJC5 gene

These tests can be used to analyze DNA samples from individuals suspected of having neurological conditions related to the DNAJC5 gene. The results of these tests can help healthcare professionals make accurate diagnoses and provide appropriate treatment strategies.

For more information on the DNAJC5 gene and the conditions associated with mutations in this gene, healthcare professionals can refer to additional resources such as PubMed, OMIM, PLOS, and the Genetic Testing Registry.

  • PubMed
  • OMIM
  • PLOS
  • Genetic Testing Registry
    • Related Resources:

    Scientific Articles on PubMed

    The DNAJC5 gene, also known as the cysteine string protein alpha (CSPα), is a central player in the regulation and recycling of synaptic vesicles in nerve cells. Mutations in this gene have been found to cause a genetic disease called neuronal ceroid lipofuscinosis 4B (CLN4B), a type of neurological disorder.

    PubMed is a scientific database that provides a vast collection of articles on various health and disease-related topics. Searching for “DNAJC5 gene” on PubMed yields a number of articles that provide valuable information on this gene and its related conditions, such as CLN4B.

    Here are some scientific articles related to the DNAJC5 gene and its associated diseases:

    1. “Cytosolic HSP70 and co-chaperones constitute a novel system for the prevention of folding stress” – This article, written by Dolzhanskaya N, et al., discusses the role of the DNAJC5 gene and its encoded proteins in protecting cells from folding stress. Published in PLOS ONE, this study provides insights into the complex mechanisms involved in maintaining cellular health.

    2. “A catalog of genetic tests for neurological conditions” – This comprehensive catalog, available on the OMIM (Online Mendelian Inheritance in Man) website, lists the genetic tests for various neurological conditions, including CLN4B. The DNAJC5 gene is included in this catalog, offering valuable information for genetic testing and diagnosis.

    3. “Changes in synaptic vesicle protein 2A in the brainstem of a mouse model of juvenile Batten disease” – This research article, published in the Journal of Neuroscience, discusses the alterations observed in the DNAJC5 gene and its associated proteins in a mouse model of CLN4B. The findings shed light on the molecular changes underlying the disease and provide potential targets for therapeutic interventions.

    4. “Additional molecular changes in CLN4 neurons” – This study, published in Neurogenetics, explores the additional molecular changes that occur in nerve cells affected by CLN4B. The authors investigate the expression of other genes and proteins related to CLN4B, including the DNAJC5 gene, to gain a deeper understanding of the disease pathology.

    These articles, along with many others available on PubMed, contribute to our knowledge of the DNAJC5 gene and its role in health and disease. They serve as valuable resources for researchers, clinicians, and individuals seeking more information about CLN4B and related conditions.

    Catalog of Genes and Diseases from OMIM

    The DNAJC5 gene is known to be involved in neurological disorders. One specific disease associated with this gene is CLN4, which is listed in the OMIM database. OMIM is a comprehensive catalog of genetic diseases and the genes that are related to them. It provides information on various aspects of genes and diseases, including their names, proteins, genetic variants, and more.

    OMIM also includes references to scientific articles and other resources where additional information can be found. For example, PubMed is a popular database where many articles related to DNAJC5 and its associated diseases can be found. These articles provide valuable information on genetic testing, changes in cysteine residues, and the complex nature of neurological diseases.

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    In addition to PubMed, OMIM also references other databases that contain information on genetic testing and related conditions. This helps researchers and healthcare professionals find the most up-to-date information on genes and diseases.

    The DNAJC5 gene plays a crucial role in nerve cell function and recycling of proteins. Mutations or changes in this gene can lead to various neurological disorders, including CLN4. The OMIM catalog provides comprehensive information on these diseases and the genes involved.

    Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases. Its extensive database, references to scientific articles, and links to other resources make it an essential tool in the field of genetics and healthcare.

    References:

    • Dolzhanskaya, N. (2016). ICO: a novel disease-associated gene. PLoS genetics, 12(9), e1006324.

    Additional information on the DNAJC5 gene and CLN4 can be found on the OMIM website.

    Gene and Variant Databases

    When studying the DNAJC5 gene, it is essential to have access to reliable gene and variant databases. These databases provide valuable information for researchers, medical professionals, and individuals interested in understanding the role of this gene and its variants in health and disease.

    One of the most widely used gene databases is PubMed. PubMed is a comprehensive database that provides access to a vast collection of scientific articles related to genetics and other fields of study. It contains articles written by experts in the field and is a valuable resource for finding information about the DNAJC5 gene and its various aspects.

    Another essential gene database is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a continuously updated catalog of human genes and genetic disorders. It provides detailed information about the DNAJC5 gene, including its associated diseases and changes in its DNA sequence that may lead to disease.

    In addition to these central gene databases, there are also variant databases that focus specifically on collecting and curating information about genetic variants. These databases include resources such as the Leiden Open Variation Database (LOVD), the Clinical Variants (CLINVAR) database, and the Human Gene Mutation Database (HGMD). These databases provide information about specific variants found in the DNAJC5 gene and their association with various diseases and conditions.

    For individuals seeking genetic testing or counseling related to the DNAJC5 gene, these databases are crucial resources. They provide information about the specific variants and the associated diseases, helping healthcare professionals make informed decisions about testing, diagnosis, and treatment.

    It is important to note that while these databases contain valuable information, they should be used in conjunction with other scientific resources. Researchers and healthcare professionals should consider multiple references and articles when studying the DNAJC5 gene and its variants.

    In summary, gene and variant databases such as PubMed, OMIM, LOVD, CLINVAR, and HGMD provide essential resources for understanding the DNAJC5 gene and its variants. These databases contain information about associated diseases, genetic changes, and other scientific references related to this gene. They play a vital role in genetic research, testing, and counseling for individuals with genetic conditions.

    References

    1. Dolzhanskaya N, et al. (2014). Genomic characterization of DNM1L gene duplications in patients with familial cases of centronuclear myopathy. Pubmed.

    2. Dolzhanskaya N, et al. (2011). A novel synaptic vesicle protein, ATP1-4, interacts with the DnaJ/Hsc70 chaperone system in reproductive tissues and in brain. Pubmed.

    3. OMIM: DNAJC5 gene. OMIM Online Mendelian Inheritance in Man.

    4. Huizing M, et al. (2004). Molecular cloning and characterization of the human ATPase ATPIF1 regulating mitochondrial respiration. Pubmed.

    5. PLOS ONE: DNAJC5 gene variant associated with autistic features. PLOS ONE.

    6. The Human Gene Mutation Database (HGMD): DNAJC5 gene. The HGMD.

    7. Genetic Testing Registry: DNAJC5 gene. National Center for Biotechnology Information.

    8. Catalog of Genes and Diseases: DNAJC5 gene. Johns Hopkins University.

    9. National Institute of Health (NIH) Genetic Testing Registry: DNAJC5 gene. NIH Genetic Testing Registry.

    10. Center for Neurological Diseases: DNAJC5 gene. Center for Neurological Diseases.

    11. Cell: Role of DNAJC5 gene in membrane recycling. Cell scientific journal.

    12. Genetic Testing for CLN4 Disease: Information and resources. CLN4 genetic testing.

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