Gene: ABHD5

Alternate names for this Gene: CGI58|IECN2|NCIE2

Gene Summary: The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.33

Description of this Gene: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

Type of Gene: protein-coding

rs28939077 in ABHD5 gene and Triglyceride storage disease with ichthyosis PMID 11590543 2001 Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

PMID 16679289 2006 Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.

PMID 18606822 2008 CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.

PMID 17495960 2007 A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

PMID 6181472 1982 Frequency and variability of ventricular premature contractions--the influence of heart rate and circadian rhythms.

rs17075898 in ABHD5 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.