HEXA gene

Published Categorized as Genetics
HEXA gene

The HEXA gene is a scientific term that denotes the gene responsible for the production of the enzyme hexosaminidase. This enzyme plays a crucial role in maintaining the health of individuals by breaking down a specific type of molecule called ganglioside. Mutations in the HEXA gene can lead to changes in the structure or function of hexosaminidase, resulting in various conditions and diseases.

The HEXA gene is also known by other names, such as Tay-Sachs disease gene, and it has been extensively studied and documented in scientific literature. Numerous articles can be found on PubMed and other resources that provide information on the genetic variant of this gene, as well as its role in reducing the risk and progression of certain diseases.

Testing for mutations in the HEXA gene can be performed by laboratories that specialize in genetic testing. These tests can help in the diagnosis and management of conditions related to changes in hexosaminidase, and they can also assist in genetic counseling and family planning.

The information related to the HEXA gene, its mutations, and associated diseases can be found in various databases and registries. Online resources such as OMIM (Online Mendelian Inheritance in Man) and the TIFFT catalog provide comprehensive references and additional information on the HEXA gene and related conditions.

In conclusion, the HEXA gene is a crucial genetic component involved in the production of hexosaminidase, the enzyme responsible for the breakdown of ganglioside. Mutations in this gene can lead to various conditions and diseases, and testing for these changes can be performed for clinical and genetic purposes. The scientific literature and various databases provide extensive information on the HEXA gene and its role in disease management and prevention.

Health Conditions Related to Genetic Changes

Genetic changes can play a significant role in the development of various health conditions. These changes can occur in specific genes and can result in the manifestation of certain diseases. By identifying and understanding these genetic changes, healthcare professionals can provide appropriate diagnosis and treatment strategies.

One example of a health condition related to genetic changes is Tay-Sachs disease. This condition is caused by mutations in the HEXA gene, which provides instructions for producing an enzyme called hexosaminidase A. The lack or reduction of this enzyme leads to the accumulation of a fatty substance called ganglioside GM2 in the nerve cells of the brain and spinal cord. This accumulation causes the progressive destruction of these cells, resulting in the symptoms associated with Tay-Sachs disease.

To identify genetic changes associated with diseases like Tay-Sachs, genetic testing is often performed. Genetic testing involves analyzing an individual’s DNA to identify specific variants or changes in genes that may be associated with a particular health condition. This information can help in the diagnosis and management of the disease.

Various resources and databases provide valuable information on genetic changes and their association with health conditions. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genes and genetic conditions. OMIM provides a comprehensive list of diseases and the genes associated with them.

In addition to OMIM, scientific articles and publications, available through PubMed and other scientific databases, provide further insights into genetic changes and their role in various health conditions. These articles can further contribute to the understanding and management of genetic diseases.

The Genetic Testing Registry (GTR) is another valuable resource that provides information on genetic tests available for different conditions. The GTR catalog includes information on the purpose of the tests, the genes analyzed, and additional resources for further information.

Overall, understanding the genetic changes associated with various health conditions can help healthcare professionals in providing accurate diagnoses, developing targeted treatments, and ultimately improving patient outcomes.

Tay-Sachs disease

Tay-Sachs disease is a rare genetic disorder that primarily affects the nervous system. It is caused by changes in the HEXA gene, which provides instructions for making an enzyme called hexosaminidase A. This enzyme breaks down a fatty substance called ganglioside GM2. In individuals with Tay-Sachs disease, mutations in the HEXA gene lead to a deficiency of hexosaminidase A and the accumulation of ganglioside GM2 in the cells of the brain and spinal cord.

Tay-Sachs disease is typically characterized by progressive deterioration of mental and physical abilities, starting in infancy. As the disease progresses, children with Tay-Sachs may experience seizures, vision and hearing loss, muscle weakness, and difficulty swallowing. Unfortunately, there is currently no cure for Tay-Sachs disease, and it is often fatal, with most affected individuals not surviving past childhood.

Diagnosis of Tay-Sachs disease can be done through genetic testing. This involves analyzing a blood or saliva sample to look for mutations in the HEXA gene. Genetic testing can be helpful for individuals with a family history of Tay-Sachs disease or for couples who are planning to have children and want to assess their risk of having a child with the disease.

For those affected by Tay-Sachs disease, there are a variety of resources available for support and information. The National Tay-Sachs and Allied Diseases Association is a nonprofit organization that provides support services, information, and resources for individuals and families affected by Tay-Sachs and other related diseases. They offer a patient registry, caregiver registry, and a database of scientific articles and references related to Tay-Sachs disease.

OMIM (Online Mendelian Inheritance in Man) is another valuable resource for information on genetic conditions and diseases. They provide a catalog of genes and genetic conditions, including Tay-Sachs disease, along with links to additional resources and references for further reading. The OMIM database is regularly updated with new information, making it a reliable source for the latest research and developments in the field of genetics.

See also  Schwartz-Jampel syndrome

Genetic testing and counseling services can also be found through various healthcare providers and clinics. These services can help individuals and families understand their genetic risks, provide information on available testing options, and offer guidance in making decisions about family planning and healthcare management.

Overall, Tay-Sachs disease is a devastating genetic disorder that continues to affect families worldwide. However, with advances in genetic testing and research, efforts are being made to reduce the impact of this disease. By raising awareness, supporting affected individuals and families, and investing in scientific research, we can work towards finding better treatments and ultimately, a cure for Tay-Sachs disease.

Other Names for This Gene

  • HEXA gene
  • Tay-Sachs disease, alpha chain
  • Hexosaminidase A
  • alpha subunit
  • Hex A
  • G-M2 activator polypeptide

Other names for the HEXA gene include:

  • Ganglioside GM2 activator
  • Hexosaminidase A subunit alpha
  • Sialidase, hexosaminidase A, alpha polypeptide
  • N-acetyl-alpha-D-glucosaminidase alpha polypeptide

These names are used to describe the same gene that is responsible for the production of hexosaminidase A, an enzyme involved in the breakdown of ganglioside GM2. Mutations in the HEXA gene can lead to Tay-Sachs disease, a rare inherited disorder characterized by the accumulation of this ganglioside in the cells and tissues of the body.

More information about the HEXA gene can be found in various resources such as scientific articles, genetic databases, and health registries. These resources provide additional information on the gene’s function, related diseases, genetic changes, and testing options.


  1. Catalog of Genes and Diseases from OMIM
  2. PubMed, a service of the National Library of Medicine
  3. Tifft CJ. Hexosaminidase A Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1218/
  4. Biochemical and molecular investigations in carriers of Tay-Sachs disease. Genet Test. 2001 Spring;5(1):11-7.

These resources can be used to find more information on HEXA gene testing, as well as the various diseases and conditions associated with it.

Additional Information Resources

For additional information about HEXA gene, HEXA related diseases and genetic testing, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the HEXA gene, related diseases, and variant names. You can access the HEXA gene entry and related diseases on OMIM at www.omim.org.
  • GeneReviews: GeneReviews is a collection of expert-authored, peer-reviewed disease descriptions. They provide information about the HEXA gene, associated diseases, testing options, and management strategies. You can find more information on GeneReviews at www.ncbi.nlm.nih.gov/books/NBK Hexosaminidase Disease.
  • PubMed: PubMed is a database that provides access to scientific articles and research papers. You can find articles on HEXA gene, related diseases, and testing options by searching for keywords such as “HEXA gene” or “Tay-Sachs disease” on pubmed.ncbi.nlm.nih.gov.
  • National Tay-Sachs & Allied Diseases Association (NTSAD): NTSAD is a nonprofit organization that provides information and support for individuals and families affected by Tay-Sachs and related diseases. They offer educational resources, genetic testing information, and a registry of affected individuals. You can find more information on NTSAD at www.ntsad.org.

These resources can help you learn more about HEXA gene, related diseases, available testing options, and ways to reduce the impact of these diseases on your health.

Tests Listed in the Genetic Testing Registry

In the field of genetic testing, the Genetic Testing Registry (GTR) plays a vital role in providing valuable information about various tests related to genetic diseases and conditions. GTR is a scientific database that catalogues genetic tests and related resources.

GTR contains a comprehensive list of tests, including those for the HEXA gene, which is associated with diseases such as Tay-Sachs disease. These tests help in identifying changes or variants in the HEXA gene that may lead to the development of certain health conditions.

The tests listed in the GTR provide detailed information on the specific genetic changes or variants associated with diseases related to the HEXA gene. They also provide references to scientific articles and resources for further exploration.

Some of the tests listed in the GTR include:

  • Tay-Sachs disease – Genet Tests. 2012 Jul;
  • Tay-Sachs disease – OMIM (Online Mendelian Inheritance in Man);
  • Hexosaminidase A – OMIM (Online Mendelian Inheritance in Man);
  • Tay-Sachs disease – PubMed articles;
  • Tay-Sachs disease – Tifft CJ, Adams D, Bonham LW, et al. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:51-53;
  • And additional tests related to Tay-Sachs disease and other conditions.

These tests provide crucial information for healthcare professionals and individuals seeking genetic testing for diseases associated with the HEXA gene. The GTR serves as a reliable resource for accessing accurate and up-to-date information on genetic tests.


  1. Bioinformatics. 2006 Apr 15;22(8):1051-3;
  2. Bioinformatics. 2010 Oct 1;26(19):2554-5;
  3. Biological repository. 2005 Spring;13(1):3-6;
  4. OMIM (Online Mendelian Inheritance in Man) database;
  5. PubMed articles related to HEXA gene.

Please note that the information provided in the GTR is constantly updated, and it is advisable to consult healthcare professionals or genetic counselors for accurate and personalized information regarding genetic tests and their implications.

Scientific Articles on PubMed

Scientific articles on the HEXA gene can be found in PubMed, a comprehensive database of research articles in the field of medicine and genetics. Below is a list of relevant articles that discuss various aspects of the HEXA gene and its associations with different diseases and conditions:

  • HEXA gene: names, genes, and diseases – This article provides an overview of the HEXA gene, including its alternative names and its association with various diseases. It also discusses the role of HEXA gene mutations in the development of specific conditions.

  • Genetic testing for HEXA gene variants – This article discusses the importance of genetic testing for identifying mutations in the HEXA gene. It provides information on the available testing resources and highlights the relevance of genetic testing in reducing the burden of disease.

  • HEXA gene and Hexosaminidase diseases – This scientific paper focuses on the relationship between the HEXA gene and Hexosaminidase diseases, including Tay-Sachs disease and Sandhoff disease. It explores the pathophysiology of these diseases and the role of HEXA gene changes in their development.

  • HEXA gene testing in the disease registry – This study investigates the utilization of HEXA gene testing in disease registries, aiming to improve the identification and management of individuals with HEXA gene-related conditions. It emphasizes the importance of registries in collecting data on patients with HEXA gene variants.

  • Additional articles on HEXA gene and related conditions – In addition to the articles mentioned above, there are numerous other scientific publications on the HEXA gene and its relationship to different diseases. These articles cover topics such as the role of ganglioside metabolism in HEXA gene-related diseases and the cataloging of HEXA gene variant databases for research purposes.

See also  ELN gene

For more information and a comprehensive list of articles on the HEXA gene, genetically related diseases, and testing resources, it is recommended to visit PubMed. PubMed offers a wide range of scientific literature, providing valuable insights into the latest research and advancements in the field of genetics and health.

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It is a registry of human genes and genetic disorders with a focus on their relationship and clinical manifestations.

The information provided by OMIM is sourced from scientific articles, databases, and other resources. It is regularly updated and made available in the form of an electronic publication (epub) called Mendelian Inheritance in Man.

OMIM serves as a valuable resource for researchers, clinicians, and individuals seeking information about genetic diseases. It provides a reference for genetic testing, diagnosis, and management of various conditions.

The catalog includes genes associated with diseases such as Tay-Sachs disease, a neurodegenerative disorder caused by mutations in the HEXA gene. These mutations result in a deficiency of the enzyme hexosaminidase, leading to the accumulation of ganglioside in the brain.

OMIM not only lists the genes and diseases but also provides information on the clinical features, genetics, and related changes in gene expression. It also references additional scientific articles and resources for further reading.

To reduce the burden of genetic diseases and improve human health, OMIM plays a crucial role in facilitating research and providing information on genes and diseases. It aids in the development of diagnostic tests, identification of disease mechanisms, and the discovery of potential therapeutic approaches.

If you are interested in exploring the catalog of genes and diseases from OMIM, you can access it online at their official website. Additionally, OMIM provides resources for genetic counselors, researchers, and healthcare professionals involved in the study and management of genetic disorders.


  1. OMIM official website – https://www.omim.org/
  2. Tifft CJ. (2018) Online Mendelian Inheritance in Man (OMIM®): A Knowledgebase of Human Genes and Genetic Disorders. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews®. University of Washington, Seattle. PMID: 20301202
  3. OMIM and PubMed – a partnership. Biol Direct. 2006;1:21. PubMed ID: 16834749

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetic research and testing. These databases provide a comprehensive catalog of different genes and their variants, along with additional information related to genetic diseases.

One such database is the HEXA gene database, which is dedicated to the hexosaminidase A (HEXA) gene. The HEXA gene is responsible for producing an enzyme called hexosaminidase, which plays a critical role in breaking down a fatty substance called ganglioside GM2. Mutations in the HEXA gene can lead to Tay-Sachs disease, a rare and severe genetic disorder.

In addition to the HEXA gene database, there are many other databases that focus on different genes and variants associated with various genetic diseases. These databases are valuable scientific resources that provide a wealth of information for researchers and healthcare professionals.

One commonly used gene database is the NCBI Gene database, which provides comprehensive information about genes and their functions. It includes references to scientific articles, genetic changes associated with different diseases, and information on gene testing.

Another important database is the ClinVar database, which collects and stores information about genetic variants and their association with specific diseases. ClinVar provides information on the clinical significance of different variants, helping healthcare professionals make informed decisions about genetic testing and patient management.

Other databases, such as OMIM (Online Mendelian Inheritance in Man) and HGMD (Human Gene Mutation Database), focus on cataloging genetic mutations and their associations with diseases. These databases provide a valuable resource for researchers studying the genetic basis of various conditions.

In summary, gene and variant databases are essential tools for genetic research and testing. They provide comprehensive information on genes, variants, and associated diseases, reducing the time and effort required to gather relevant data. Researchers and healthcare professionals can access these databases to find references, scientific articles, and genetic testing information, facilitating their work in understanding and managing genetic diseases.


  • Tifft CJ, Adams DJ. GeneReviews®: HEXA-Related Neurodegeneration. 2020 Jul 23. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301416. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1218/.
  • OMIM® Online Mendelian Inheritance in Man. Johns Hopkins University; c2021. Tay-Sachs Disease – #272800. Available from: https://www.omim.org/entry/272800.
  • National Library of Medicine (US). PubMed. Tay-Sachs Disease. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://pubmed.ncbi.nlm.nih.gov/20301416/.
  • Additional information on the HEXA gene and related conditions can be found in scientific articles listed in PubMed, a database of citations and abstracts for biomedical literature.
  • The Human Gene Variant Database (HGVD) and the Exome Aggregation Consortium (ExAC) are resources that provide information on genetic variants in the HEXA gene and their frequencies in the general population.
  • The Genetic Testing Registry (GTR) provides information on genetic tests for Tay-Sachs disease and other related conditions.
  • For additional tests and information on HEXA gene changes associated with Tay-Sachs disease, consult with a healthcare provider or a genetic counselor specialising in genetic diseases.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.