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
Gene: ANO10
Alternate names for this Gene: SCAR10|TMEM16K
Gene Summary: The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 3
Location in Chromosome : 3p22.1-p21.33
Description of this Gene: anoctamin 10
Type of Gene: protein-coding
rs104893676 in
ABHD5;ANO10 gene and
Triglyceride storage disease with ichthyosis
PMID 18606822 2008 CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
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 17495960 2007 A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.