ABHD5

(redirected from CGI-58)

ABHD5

A gene on chromosome 3p25.3-p24.3 that encodes a member of a large family of proteins defined by an alpha/beta hydrolase fold, which play a role in phosphatidic acid biosynthesis and keratinocyte differentiation. ABHD5 may regulate cell storage of triacylglycerol by activating PNPLA2, a phospholipase.

Molecular pathology
ABHD5 mutations cause neutral lipid storage disease (Chanarin-Dorfman syndrome), a triglyceride storage disease with defective long-chain fatty acid oxidation.
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References in periodicals archive ?
ATGL is activated by comparative gene identification-58 (CGI-58), a protein member of a/^-hydrolase fold enzyme family [58].
Like CGI-58, HSL is highly expressed in type I oxidative fibers of skeletal muscle, and it is activated by adrenergic stimulation and contraction [63, 64].
As mentioned above, ATGL and CGI-58 are necessary for the activation of HSL in the regulation of lipolysis.
Specifically, it was described that CGI-58 promotes mitochondrial fission through upregulation of Drp-1 expression producing mitochondrial fragmentation.
Haemmerle et al., "Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman syndrome," Cell Metabolism, vol.
Coonen et al., "Regulation of skeletal muscle lipolysis and oxidative metabolism by the co-lipase CGI-58," Journal of Lipid Research, vol.
It is known, however, that ATGL activity is greatly enhanced in the presence of the coactivator comparative gene identification-58 (CGI-58), also known as [alpha]/[beta]-hydrolase domain-containing protein 5.
The human ABHD5 (CGI-58) gene, which is located on chromosome 3p21, encodes a protein of the esterase/lipase/thioesterase subfamily.
Complete DNA sequencing of the 7 exons and the intron/exon boundaries of the ABHD5 gene (CGI-58 gene) was performed.
CGI-58 protein is located on the surface of cytoplasmic lipid droplets.
This mutation is predicted to have a negative effect on both CGI-58 structure and function.
Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily in Chanarin Dorfman syndrome.