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Genetics Home Reference: your guide to understanding genetic conditions
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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 genes are 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 summarizes the normal function and health implications of 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:

  • Chanarin-Dorfman syndrome

Where can I find additional information about the ABHD gene family?

You may find the following resources about the ABHD gene family helpful.

  • ESTHER database: The α/β-hydrolase fold superfamily of proteins (http://bioweb.ensam.inra.fr/ESTHER/general?what=index)

What glossary definitions help with understanding the ABHD gene family?

acids ; domain ; gene ; hydrolase ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the ABHD gene family.

  • Heikinheimo P, Goldman A, Jeffries C, Ollis DL. Of barn owls and bankers: a lush variety of alpha/beta hydrolases. Structure. 1999 Jun 15;7(6):R141-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10404588?dopt=Abstract)
  • Bugg TD. Diverse catalytic activities in the alphabeta-hydrolase family of enzymes: activation of H2O, HCN, H2O2, and O2. Bioorg Chem. 2004 Oct;32(5):367-75. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15381402?dopt=Abstract)
  • Holmquist M. Alpha/Beta-hydrolase fold enzymes: structures, functions and mechanisms. Curr Protein Pept Sci. 2000 Sep;1(2):209-35. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12369917?dopt=Abstract)
  • Hotelier T, Renault L, Cousin X, Negre V, Marchot P, Chatonnet A. ESTHER, the database of the alpha/beta-hydrolase fold superfamily of proteins. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D145-7. (http://www.ncbi.nlm.nih.gov/pubmed/14681380?dopt=Abstract)
  • Nardini M, Dijkstra BW. Alpha/beta hydrolase fold enzymes: the family keeps growing. Curr Opin Struct Biol. 1999 Dec;9(6):732-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10607665?dopt=Abstract)

 

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.

 
Reviewed: November 2008
Published: May 13, 2013