ABHD gene family

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.