|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
ABHD gene family
Reviewed November 2008
What are the ABHD genes?
Genes in the abhydrolase (alpha-beta hydrolase) gene family provides instructions for producing proteins that have a specific structure called an alpha-beta hydrolase fold. This fold consists of alternating shapes called alpha-helices and beta-sheets. Alpha-helices are small coils of protein building blocks (amino acids). Beta-sheets are flattened and extended sections of the protein that are not twisted or coiled. Beta-sheets are typically lined up next to each other and joined by a short loop. An alpha-beta hydrolase fold usually consists of eight beta-sheets and six alpha-helices.
The functions of many abhydrolase proteins are unknown. It is known, however, that the ABHD2 protein is involved in the functioning of muscle cells that surround blood vessels, and that the ABHD5 protein plays a role in the breakdown of certain fats.
A few diseases caused by mutations in ABHD genes have been identified. Mutations in the ABHD5 gene, for example, cause Chanarin-Dorfman disease, a condition of abnormal fat storage.
Which gene is included in the ABHD gene family?
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ABHD family (http://www.genenames.org/genefamily/abhd.php).
Genetics Home Reference provides additional information about this member of the ABHD gene family: ABHD5.
What conditions are related to genes in the ABHD gene family?
Genetics Home Reference includes these conditions related to genes in the ABHD gene family:
Where can I find additional information about the ABHD gene family?
You may find the following resources about the ABHD gene family helpful.
What glossary definitions help with understanding the ABHD (abhydrolase domain containing genes) gene family?
acids ; amino acid ; cell ; domain ; gene ; hydrolase ; mutation ; protein
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the ABHD gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.