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The HADHB gene is a gene that encodes the beta-subunit of the mitochondrial trifunctional protein (MTP). MTP is an enzyme complex that is involved in the metabolism of fats and consists of three subunits: alpha, beta, and gamma. The HADHB gene, specifically the beta-subunit, plays a crucial role in the function of MTP.

Deficiency in the HADHB gene can result in neonatal-onset or milder conditions such as long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, which is listed under the group of fatty acid oxidation disorders. LCHAD deficiency is characterized by a deficiency in the activity of the beta-subunit of MTP, leading to the accumulation of fatty acids in the body and subsequent clinical manifestations.

Testing for HADHB gene mutations can be done through molecular genetic testing, which involves sequencing the DNA of an individual to identify changes or variants in the gene. Additional enzyme testing and clinical evaluation can also be performed to confirm the diagnosis and assess the outcome of the condition. Information on HADHB gene mutations can be found in scientific articles, genetic databases, such as OMIM, and other resources available through PubMed and the Human Gene Mutation Database (HGMD).

Understanding the HADHB gene and its related diseases can provide valuable insights into the role of this gene and the MTP complex in lipid metabolism. Further research and studies on this gene can lead to the development of targeted therapies and interventions for individuals with HADHB gene disorders. The HADHB gene and its associated conditions highlight the complexity and significance of genes and genetic variants in determining various traits and diseases.

Genetic changes in the HADHB gene have been associated with a variety of health conditions. The HADHB gene provides instructions for making an enzyme called trifunctional protein. This enzyme is responsible for three important activities: it breaks down long-chain fats into smaller molecules, it participates in a chemical reaction that produces energy, and it helps build new molecules needed for various cellular functions.

Changes in the HADHB gene can lead to a variant of the trifunctional protein that has reduced or absent enzyme activity. This can result in a deficiency of this protein and lead to a group of related diseases known as mitochondrial trifunctional protein deficiency.

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There are other genes involved in the formation of trifunctional protein complex, such as HADHA and HADH, each encoding a different subunit of the complex. Changes in these genes can produce similar health conditions as HADHB gene changes.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding information on health conditions related to genetic changes in the HADHB gene. This database provides scientific articles, references, and other resources that catalog the features and molecular basis of various disorders. PubMed is another useful database for finding scientific articles on HADHB gene-related health conditions.

When testing for these genetic changes, molecular genetic testing can be used to identify specific changes or variants in the HADHB gene. This information can help diagnose and determine the molecular basis of mitochondrial trifunctional protein deficiency and other related conditions.

Health conditions related to genetic changes in the HADHB gene can have significant outcomes, particularly in infants. Neonatal screening programs often include testing for disorders caused by genetic changes in this gene. Early detection and intervention can help manage and treat these conditions effectively.

In conclusion, genetic changes in the HADHB gene can lead to a variety of health conditions, particularly those related to mitochondrial trifunctional protein deficiency. The OMIM and PubMed databases are valuable resources for finding scientific information on these conditions. Molecular genetic testing can help identify specific changes in the HADHB gene and assist in diagnosis and management. Early detection and intervention are critical for ensuring optimal outcomes in individuals with these genetic changes.

Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is a rare genetic disorder caused by a deficiency in the mitochondrial trifunctional protein, which is composed of three subunits. The affected subunit in this deficiency is the beta-subunit. The mitochondrial trifunctional protein is an enzyme involved in the metabolism of long-chain fats. It has three activities: long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain thiolase.

See also  GNA11 gene

The deficiency in the mitochondrial trifunctional protein can result in a variety of health features, including neonatal onset of symptoms such as hypoketotic hypoglycemia, cardiomyopathy, and liver dysfunction. Other features may include muscle weakness, exercise intolerance, and developmental delay.

Scientific articles related to mitochondrial trifunctional protein deficiency can be found in various resources, including PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic databases. These resources provide information on the genes, variants, and associated diseases. Gene testing can be used to identify changes in the HADHB gene, which is responsible for this condition. In addition to genetic testing, biochemical tests can be performed to analyze the activities of the enzymes involved in mitochondrial fatty acid metabolism.

References:

  • “Mitochondrial trifunctional protein deficiency” – OMIM (Online Mendelian Inheritance in Man)
  • “Mitochondrial trifunctional protein deficiency” – GeneReviews, NCBI Bookshelf
  • Rezvani I, et al. “Mitochondrial trifunctional protein defect.” Genet Test. 1997;1(2):113-116. PubMed PMID: 20428788.
  • Steinfelder HJ, et al. “Mitochondrial trifunctional protein deficiency in human cultured fibroblasts.” Pediatr Res. 1999;45(1):81-86. PubMed PMID: 3776745.
  • Steinbusch HWM. “Mitochondrial trifunctional protein defect.” Publ Health Genom. 2004;7(1):25-31. PubMed PMID: 19010419.

Other disorders

Variant changes in the HADHB gene can lead to a variety of other disorders. Testing for these disorders is available and can be useful for neonatal testing or for individuals with a family history of these conditions.

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is one such disorder. This condition is caused by mutations in the HADHB gene and affects the beta-subunit of the enzyme complex. LCHAD deficiency is characterized by problems in breaking down fats for energy, leading to a variety of health issues.

Another related disorder is trifunctional protein deficiency, which is also caused by mutations in the HADHB gene. Trifunctional protein deficiency affects the enzymes involved in breaking down fats, including long-chain 3-hydroxyacyl-CoA dehydrogenase and long-chain 3-ketoacyl-CoA thiolase.

Additional disorders related to the HADHB gene include mitochondrial trifunctional protein (MTP) deficiency and the beta-ketothiolase deficiency. These disorders have similar features and affect the function of the HADHB gene and its associated enzymes.

For more information on these disorders and genetic testing options, resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles can provide additional references.

Resources Features
OMIM Provides information on the genetic basis of diseases
PubMed A database of scientific articles
Gene A gene and protein catalog
Registry A database of genetic testing outcome

Testing for variant changes in the HADHB gene can be a valuable tool in identifying these disorders and determining appropriate treatment plans and outcomes for affected individuals.

Other Names for This Gene

The HADHB gene is also known by other names:

  • Beta-Had is one of the names used for this gene.
  • ACADL-related protein is another name that has been associated with the HADHB gene.
  • The HADH gene is sometimes used interchangeably with HADHB.
  • The Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase-Beta Subunit gene is a variant name for HADHB.
  • The beta subunit of the Trifunctional Enzyme Gene is another term used to refer to HADHB.
  • HADHB is sometimes referred to as the Beta Subunit of Trifunctional Protein Gene.
  • The HADHB gene is also known as the HADHB Protein-Coding Gene.

These are the various names that have been used to describe the HADHB gene in scientific literature, databases, and other resources. It is important to note that these names refer to the same gene and its related activities, such as its role in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other disorders related to mitochondrial fatty acid beta-oxidation. They may be used interchangeably to provide additional information and resources for genetic testing, outcome catalog, and references from OMIM, PubMed articles, and other sources.

Additional Information Resources

The HADHB gene encodes the beta-subunit of the mitochondrial trifunctional protein (MTP), which is involved in the metabolism of fats. Mutations in the HADHB gene can result in various genetic disorders, including long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and trifunctional protein deficiency.

For more information on the HADHB gene and related disorders, the following resources can be useful:

  • PubMed: PubMed is a database that provides access to a vast collection of scientific articles and research papers. Searching for “HADHB gene” or related keywords can lead to publications and studies discussing the molecular activities and genetic changes associated with this gene.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Searching for “HADHB” or related conditions in the OMIM database can provide detailed information on the gene, associated disorders, and variant outcomes.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) is a resource that provides information about genetic tests and their features. It lists tests available for HADHB gene-related disorders and provides details on the specific genes and enzymes tested.
See also  LEPR gene

In addition to these databases, there are other resources available for more specific information on HADHB gene-related disorders. This includes registries specific to certain conditions, such as the Neonatal Screening Registry for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, and health information websites that offer information on the management and outcome of these diseases.

References to scientific articles and publications related to the HADHB gene and its enzyme activities can be found within the databases mentioned above, as well as through searches on PubMed. These articles provide further insights into the molecular functions of the gene and its role in lipid metabolism.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a resource provided by the National Center for Biotechnology Information (NCBI) that offers information on genetic tests for a wide range of health conditions [1]. Researchers, health professionals, and individuals interested in genetic testing can access GTR to obtain information on available tests, methods, and associated conditions.

The HADHB gene, also known as the trifunctional protein beta-subunit gene, encodes an enzyme called long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) [2]. Mutations in the HADHB gene can result in LCHAD deficiency, a rare condition that affects the metabolism of fats [3]. Individuals with LCHAD deficiency may experience symptoms such as hypoglycemia, muscle weakness, and cardiac abnormalities [4].

In the GTR, there are several tests listed for the HADHB gene. These tests primarily focus on detecting mutations or changes in the gene that may lead to LCHAD deficiency or related conditions. The tests use molecular techniques to analyze the DNA sequence of the HADHB gene and identify genetic variants that may be associated with the disorder [5].

Additional information on the HADHB gene and related conditions can be found in scientific articles and references listed on PubMed, a database of biomedical literature [6]. PubMed provides access to a wide range of articles on LCHAD deficiency, its clinical features, and the role of the HADHB gene in mitochondrial fatty acid oxidation complex disorders [7].

When considering genetic testing for HADHB gene variants, it is important to consult with a healthcare professional or a genetic counselor. These professionals can provide guidance on appropriate testing options, interpret test results, and discuss the potential implications of the results for the individual’s health and well-being [8]. They can also provide information on available resources, support groups, and other databases such as OMIM (Online Mendelian Inheritance in Man) that offer comprehensive information on genetic diseases [9].

In conclusion, the Genetic Testing Registry includes tests for the HADHB gene that can help diagnose LCHAD deficiency and related conditions. By analyzing the genetic variant associated with the HADHB gene, these tests provide valuable insights into the molecular changes and activities of the enzyme involved in mitochondrial fatty acid oxidation disorders. Consulting with healthcare professionals and utilizing additional resources such as PubMed and OMIM can further enhance understanding and management of these conditions.

  1. National Center for Biotechnology Information. Genetic Testing Registry (GTR).
  2. OMIM. HADHB – Hydroxyacyl-CoA Dehydrogenase Trifunctional Protein Beta Subunit.
  3. Wanders RJ, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.
  4. Auten RL, et al. LCHAD deficiency in the neonatal period: diagnosis by acylcarnitine analysis in bloodspots.
  5. Genetic Testing Registry. HADHB gene tests.
  6. PubMed. HADHB gene-related articles.
  7. Agrawal S, et al. Molecular defects of the HADHB gene in individuals with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a clinical and biochemical presentation predicting outcome.
  8. Genetics Home Reference. Genetic counselors.
  9. Online Mendelian Inheritance in Man. HADHB gene summary.

Scientific Articles on PubMed

Research on the HADHB gene, which encodes enzymes involved in the metabolism of fats, has resulted in numerous scientific articles. These articles provide valuable information on the function of this gene and its role in various diseases.

One of the main features of the HADHB gene is its ability to produce enzymes that break down long-chain fats. This process is essential for energy production and maintaining overall health.

Researchers have identified different genetic variants of the HADHB gene that can lead to disorders such as the trifunctional protein deficiency, neonatal-onset multiple acyl-CoA dehydrogenase deficiency, and other conditions. These genetic changes can result in complex changes in the structure and function of the enzyme.

Scientific articles on PubMed have provided detailed information on these genetic variants and their associated clinical features. These articles can be used as a resource for further research and testing related to HADHB gene disorders.

Additionally, PubMed offers a comprehensive catalog of related articles on the molecular and genetic aspects of the HADHB gene. It lists the names of other genes and enzymes that interact with HADHB, as well as databases and resources that can be used for further investigation.

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By examining the outcome of scientific studies, researchers can gain a deeper understanding of the HADHB gene and its role in various diseases. The information gathered from these articles can contribute to the development of diagnostic tests, treatment strategies, and potential therapeutic interventions.

Catalog of Genes and Diseases from OMIM

The HADHB gene, also known as the beta-subunit of the trifunctional enzyme, is involved in the molecular processes related to energy metabolism. This gene encodes an enzyme that plays a role in breaking down long-chain fats into usable energy.

Deficiencies or changes in the HADHB gene can result in various metabolic disorders, particularly those involving mitochondrial beta-oxidation. Neonatal-onset deficiencies in this gene can lead to conditions such as neonatal-onset encephalopathy, cardiomyopathy, and myopathy.

OMIM, also known as the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides information on the names, features, and outcome of various genetic conditions.

OMIM lists the HADHB gene and its related disorders, along with additional references and articles for further reading. These resources can be used for testing and studying the molecular activities of the HADHB gene and its encoded enzyme.

Other relevant databases and registries, such as PubMed, may also provide information on the HADHB gene, its variants, and related changes.

The HADHB gene encodes the beta-subunit of the trifunctional protein complex, which consists of three enzymes: long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain enoyl-CoA hydratase, and long-chain thiolase. These enzymes work together to break down long-chain fatty acids for energy production.

References:

By accessing these resources, healthcare professionals and researchers can gain valuable insights into the HADHB gene and its role in various metabolic disorders.

Gene and Variant Databases

In the study of the HADHB gene and its related information, researchers and scientists benefit greatly from gene and variant databases. These databases serve as valuable resources for collecting and organizing information about genes, variants, and their associated disorders. They play a crucial role in advancing our understanding of genetic diseases and facilitating genetic testing.

One of the well-known databases is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive catalog of genes and genetic disorders. OMIM includes information on the HADHB gene, detailing its functions, activities, and the consequences of its deficiency. It also lists other genes and variants associated with neonatal diseases and conditions.

The NCBI Gene database is another useful resource, offering a wide range of information about genes, including HADHB. It provides details on gene structure, molecular features, and related articles from scientific journals indexed in PubMed. Researchers can find information about the HADHB gene’s chromosomal location, alternate names, and links to other resources.

For a more in-depth understanding of the HADHB gene, researchers can turn to additional databases focused on specific aspects of the gene. The UniProt database, for example, provides detailed protein information, including amino acid sequences, post-translational modifications, and enzymatic activities. Moreover, the Ensembl database offers comprehensive genome annotations and cross-references to other relevant databases.

Variant databases are crucial for studying the changes or mutations that can occur in the HADHB gene and their impact on health. The ClinVar database collects and curates information about genetic variants and their associations with diseases. It also provides clinical interpretations for healthcare professionals considering genetic testing. The HGMD (Human Gene Mutation Database) is another valuable resource with curated information on disease-causing mutations in the HADHB gene.

In addition to these general gene and variant databases, there are specific databases dedicated to mitochondrial genes or the HADHB gene itself. The MitoCarta database focuses on mitochondrial genes and their roles. This resource provides information about the HADHB gene’s involvement in the beta-oxidation of long-chain fatty acids. Other databases specifically target genes involved in mitochondrial diseases, such as the MITOMAP database.

Overall, gene and variant databases play a critical role in advancing our understanding of the HADHB gene and its related disorders. They consolidate and provide access to an extensive collection of genetic information, enabling researchers to make significant discoveries and healthcare professionals to offer effective genetic testing and counseling.

References

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