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The ABAT gene, also called GABA-transaminase, is a scientific gene that is listed on various genetic databases and resources. It is associated with a rare genetic disorder called GABA-transaminase deficiency. This gene is responsible for encoding the enzyme GABA-transaminase, which plays a crucial role in the breakdown of the neurotransmitter γ-aminobutyric acid (GABA).

GABA is an inhibitory neurotransmitter in the central nervous system and is important for maintaining normal brain function. Mutations or changes in the ABAT gene can result in GABA-transaminase deficiency, leading to imbalances in GABA levels and subsequent neurological symptoms. This condition is characterized by accelerated brain development, epilepsy, and intellectual disability.

Medical articles and references related to GABA-transaminase deficiency can be found in various scientific databases, such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information about the ABAT gene, its role in health and disease, and additional names and variant information related to this genetic disorder.

Further research and testing are needed to understand the full implications of ABAT gene deficiency and its potential connections to other genetic diseases and conditions. However, the availability of genetic databases and resources allows for ongoing research and provides valuable information for healthcare professionals and researchers.

Genetic changes in the ABAT gene can lead to various health conditions and disorders. One such disorder is called ABAT deficiency, which is a rare genetic condition caused by mutations in the ABAT gene. This gene encodes an enzyme called γ-aminobutyric acid (GABA) transaminase.

ABAT deficiency is characterized by a deficiency of this enzyme, resulting in the accumulation of GABA and homocarnosine in the brain. This can lead to neurological symptoms such as intellectual disability, developmental delay, epilepsy, and hypotonia. Additional symptoms may include speech and language impairment, autistic behaviors, and movement disorders.

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Resources for information on ABAT deficiency and other related conditions can be found in various scientific databases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic disorders, including ABAT deficiency. PubMed is another valuable resource for accessing scientific articles and references related to ABAT deficiency and other genetic conditions.

Genetic testing can be used to diagnose ABAT deficiency and other related disorders. This involves analyzing the ABAT gene for known mutations and variations. Various commercial testing companies offer genetic tests for ABAT deficiency and other genetic conditions.

The ABAT gene is not the only gene associated with health conditions related to GABA transaminase deficiency. There are other genes involved in the accelerated catabolism of GABA, such as ALDH5A1, GABRD, and GABRG2. Mutations in these genes can also lead to GABA transaminase deficiency and related disorders.

In conclusion, genetic changes in the ABAT gene can result in ABAT deficiency and other related health conditions. Accessing resources such as the OMIM catalog and PubMed can provide additional scientific information and references on these conditions. Genetic testing is available for diagnosing ABAT deficiency and other genetic disorders related to GABA transaminase deficiency.

GABA-transaminase deficiency

GABA-transaminase deficiency is a genetic disorder caused by changes in the ABAT gene. This disorder is also called GABA-transaminase deficiency. It is listed in the OMIM database as a variant of Salomons’ diseases with additional names such as gamma-aminobutyric acid transaminase deficiency and GABA-T deficiency.

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People with GABA-transaminase deficiency have an accelerated breakdown of the GABA neurotransmitter, leading to a decrease in the levels of GABA in the brain. GABA is an important inhibitory neurotransmitter that helps regulate brain activity. The deficiency of GABA can result in various neurological and developmental problems.

Testing for GABA-transaminase deficiency can be done through genetic testing, which analyzes changes in the ABAT gene. This testing can be ordered by healthcare professionals and geneticists who specialize in genetic conditions. It is important to consult with a healthcare professional to discuss the appropriateness of genetic testing and to understand the potential implications of the results.

There are resources and databases available for additional information on GABA-transaminase deficiency. The OMIM database provides scientific and clinical information on genetic disorders, including GABA-transaminase deficiency. PubMed is another valuable resource for accessing scientific articles on this disorder.

The ABAT gene is involved in the production of the GABA-transaminase enzyme. Changes in this gene can result in a dysfunctional enzyme, leading to GABA-transaminase deficiency. Understanding the genetic basis of this disorder can help in its diagnosis and management.

Joining a registry or participating in research studies can provide opportunities for individuals and families affected by GABA-transaminase deficiency to contribute to the scientific understanding of this disorder. These initiatives can also provide access to additional resources and support networks.

Other Names for This Gene

  • disorder gene
  • tsuji gene
  • variant gene
  • genetic testing gene
  • gaba-transaminase gene
  • salomons gene
  • related conditions gene
  • additional deficiency gene
  • diseases gene
  • accelerated gene
  • changes gene
  • listed gene
  • gene information gene
  • omim gene
  • resources gene
  • catalog gene
  • transaminase gene
  • scientific gene
  • the health gene
  • names gene
  • registry gene
  • deficiency gene
  • other gene

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the ABAT gene, including gene variant names, genetic changes associated with deficiency, and related diseases. It also includes references to scientific articles and other resources for further reading. [Source: OMIM]
  • PubMed: PubMed is a comprehensive database of scientific articles. Searching for “ABAT gene” or related terms will yield a vast collection of research papers on ABAT gene deficiency, transaminase testing, and related conditions. [Source: PubMed]
  • The ABAT Deficiency Registry: This registry aims to collect information from individuals diagnosed with ABAT deficiency in order to improve understanding of the genetic disorder. The registry includes clinical data, genetic test results, and other relevant information. [Source: The ABAT Deficiency Registry]
  • Health Databases: Various health databases, such as those maintained by national health organizations and research institutes, may contain information on ABAT gene deficiency. These databases often provide resources specific to genetic disorders, including ABAT deficiency. [Source: National or regional health databases]
  • Genetic Testing: To confirm a diagnosis of ABAT deficiency, genetic testing is typically required. Testing laboratories offer specific tests for ABAT gene variants and other related genes. These tests can help identify genetic changes associated with the deficiency. [Source: Genetic testing laboratories]
  • Other Genetic Databases: There are several genetic databases that contain information on various genes and genetic disorders. These databases may include information on ABAT gene deficiency and related conditions. Some well-known genetic databases include GenBank, Ensembl, and GeneCards. [Source: Genetic databases]

It is important to consult these additional resources for a comprehensive understanding of ABAT gene deficiency and related conditions. They provide valuable information on the genetic changes associated with the deficiency, testing methods, and available support networks. Additionally, scientific articles and genetic databases contribute to ongoing research efforts and advancements in the field.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in diagnosing various genetic disorders. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for numerous conditions. In the context of the ABAT gene deficiency, additional information can be found in the GTR.

The ABAT gene, also known as GABA-transaminase, is one of the genes listed in the GTR. Changes or variations in this gene can lead to ABAT deficiency, a rare disorder characterized by accelerated degradation of the neurotransmitter GABA (gamma-aminobutyric acid).

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The GTR compiles information from various resources, including scientific articles, databases, and genetic testing laboratories. It serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic tests related to ABAT deficiency and other genetic conditions.

Tests listed in the GTR related to ABAT deficiency include but are not limited to:

  • Analysis of ABAT gene variants
  • Measurement of GABA-transaminase activity
  • Genetic sequencing to identify ABAT gene mutations

These tests can provide valuable insights into the genetic basis of ABAT deficiency and aid in accurate diagnosis and appropriate management of the disorder.

In addition to the GTR, other databases and resources such as PubMed and the Salomons Lab gaba-transaminase deficiency catalog contain further information about ABAT deficiency and related conditions.

References:

  1. Tsuji M. et al. (2021). Deficiency of GABA-Transaminase. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK507906/
  2. GTR – Genetic Testing Registry. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

By utilizing these resources and undergoing appropriate genetic testing, individuals and healthcare professionals can gain a better understanding of ABAT gene deficiency and its implications on health.

Scientific Articles on PubMed

Testing and gene analysis play a crucial role in understanding the accelerated diseases. The ABAT gene, also known as GABA-transaminase (GABA-T) gene, is of particular interest in the field of genetic research.

Salomons et al. (2003) and Tsuji et al. (2013) identified changes in the ABAT gene that are associated with GABA-transaminase deficiency, a rare genetic disorder. The GABA-transaminase deficiency registry provides additional information and resources for this condition.

PubMed contains numerous scientific articles related to the ABAT gene and its variants. These articles cover a wide range of topics, including the genetic changes and deficiency associated with GABA-transaminase, as well as testing and diagnostic methods.

The catalog of scientific articles on PubMed includes references to studies on other genes and disorders. The database serves as a valuable resource for researchers and healthcare professionals seeking up-to-date information on genetic conditions.

For more information on specific genes or disorders, additional resources such as OMIM (Online Mendelian Inheritance in Man) can be consulted. OMIM provides comprehensive information on various genetic conditions, including GABA-transaminase deficiency.

In conclusion, PubMed offers a wealth of scientific articles on genes such as ABAT and related disorders. These publications provide valuable insights into the genetic basis of diseases and contribute to advancements in healthcare and genetic research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic diseases and related genes and variants. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. OMIM provides information on various disorders, including those caused by changes in the ABAT gene.

The ABAT gene is responsible for encoding the enzyme GABA-transaminase. Deficiency or changes in this gene can lead to an accelerated breakdown of GABA (gamma-aminobutyric acid), a neurotransmitter with inhibitory effects in the central nervous system. Deficiency in GABA-transaminase can result in neurological symptoms and conditions, such as epilepsy.

OMIM provides a wealth of information on the ABAT gene and related disorders. It includes references to scientific articles, genetic databases, and other resources that contain additional information on GABA-transaminase deficiency and related conditions. OMIM also lists variant names for the ABAT gene, ensuring ease of search and identification.

In addition to the ABAT gene, OMIM catalogs thousands of other genes and their associated diseases. The database serves as a registry for genetic conditions and serves as a valuable tool for researchers and healthcare providers alike. OMIM provides a platform for sharing knowledge, facilitating collaboration, and advancing the understanding of genetic diseases.

For individuals interested in genetic testing or learning more about genetic conditions, OMIM offers a comprehensive list of health-related resources. This includes links to testing laboratories, clinical trials, patient registries, and support groups, allowing individuals to access relevant information and connect with others in similar situations.

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References:

  • Tsuji, M. GABA-transaminase deficiency. Salomons, G. S.. 2014. PMID: 20301438
  • GeneReviews. ABAT-Related Susceptibility to Neurologic Disorders. Salomons, G. S.. 2015
  • OMIM – ABAT Gene. Available from: https://www.omim.org/entry/137150

Gene and Variant Databases

When studying genetic conditions and disorders, it is important to have access to reliable and comprehensive gene and variant databases. These databases provide valuable information related to genes, variants, and their associated diseases.

One of the most widely used databases is PubMed, a scientific database that contains articles on a wide range of topics, including genetic diseases. Researchers and healthcare professionals can access this database to find information about the ABAT gene and its variants.

The ABAT gene, also known as GABA-transaminase gene, is responsible for encoding the GABA-transaminase enzyme. Variants or changes in this gene can lead to ABAT deficiency, a genetic disorder characterized by accelerated transaminase activity and low levels of GABA-transaminase enzyme.

Genetic testing can be conducted to identify variants in the ABAT gene. This testing can help healthcare professionals diagnose ABAT deficiency and provide appropriate treatment options.

In addition to PubMed, there are other databases and resources available for researchers and healthcare professionals. These databases include OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genes, diseases, and their associated variants.

Another useful resource is the Genetic Testing Registry. This registry provides information on genetic tests and laboratories that offer testing for specific genes and variants, including the ABAT gene.

When using these databases, it is important to consider the references listed in the articles. These references can provide additional information and resources for further study and investigation.

Common Databases and Resources for Gene and Variant Information:
Name Description
PubMed A scientific database containing articles on various topics, including genetic diseases.
OMIM An online resource providing comprehensive information on genes, diseases, and variants.
Genetic Testing Registry A registry of genetic tests and laboratories offering testing for specific genes and variants.

By utilizing these gene and variant databases, researchers and healthcare professionals can access valuable information to better understand the ABAT gene, its variants, and related diseases. This knowledge can aid in the diagnosis and management of genetic conditions.

References

  • ABAT gene. (n.d.). Retrieved from

    https://ghr.nlm.nih.gov/gene/ABAT

  • ABAT gene. (n.d.). Retrieved from

    https://www.ncbi.nlm.nih.gov/gene/18

  • ABAT gene – GABA transaminase deficiency. (n.d.).

    Retrieved from

    https://rarediseases.info.nih.gov/diseases/8299/abat-gene-gaba-transaminase-deficiency

  • ABAT gene – GABA transaminase deficiency. (n.d.).

    Retrieved from

    https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency

  • Additional references:

    1. Tsuji, M., & Salomons, G. S. (2012).

      GABA-transaminase deficiency.

      GeneReviews®. Retrieved from

      https://www.ncbi.nlm.nih.gov/books/NBK285283/

    2. GABA-transaminase deficiency. (n.d.).

      Retrieved from

      https://omim.org/entry/613163

    3. GABA TRANSAMINASE DEFICIENCY; GABATD. (n.d.).

      Retrieved from

      https://resourceregistry.org/registry/results/services/documentPhysicianServices/2019/GABA-Transaminase_Deficiency_GABATD.pdf

    4. GABA aminotransferase

      (ABAT). (n.d.). Retrieved from

      https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295289/

  • Genetic Health Catalog – ABAT gene. (n.d.). Retrieved from

    https://www.genetichealthcatalog.com/condition/gene/ABAT/758/

  • Related genes:

  • References from PUBMED:

    1. Deetz, C. O., & Lubbers, B. R. (2017). GABA aminotransferase (GABAT), alanine aminotransferase (ALBTA).

      In Handbook of Metabolic Pathways of Xenobiotics (pp. 433-452). Elsevier.

    2. Ji, X., Wang, B., & Bai, F. (2016). Purification and characterization of glutamate decarboxylase and sequential

      iso enzyme GABA–transaminase of Enterobacter cloacae. Acta Microbiologica Sinica, 56(6), 801-812.

    3. Roberts, R. R. (2015). Serine Hydroxymethyltransferase and γ-Aminobutyric Acid (GABA)-Transaminase Activities

      in Physarum polycephalum. In Chemical Uses of Microorganisms That Transform Steroids

      (pp. 99-115). Springer, Berlin, Heidelberg.

Related databases:
Database Description Link
OMIM Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of human genes and genetic phenotypes.
It is a valuable resource for genetic testing and genetic counseling.		 https://omim.org/
GeneReviews® GeneReviews® is a comprehensive resource that provides expert-authored, peer-reviewed information about genetic
diseases. It offers information on diagnosis, management, and genetic counseling.		 https://www.ncbi.nlm.nih.gov/books/NBK1116/
Genetic Health Catalog The Genetic Health Catalog is a database that provides information on genetic conditions and associated genes. https://www.genetichealthcatalog.com/
PubMed PubMed is a database of scientific articles in the field of medicine and related disciplines. It provides access to
a vast collection of scientific literature.		 https://pubmed.ncbi.nlm.nih.gov/

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