Entrez gene ID | | 51099 |
Official gene symbol | | ABHD5 |
Full name | | abhydrolase domain containing 5 |
Aliases | | ,CDS,CGI58,IECN2,MGC8731,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. [provided by RefSeq] |
Location | | Chromosome: 3 Locus: 3p21 |
Gene position | | 43732375 - 43764217 Map Viewer |
Gene orientation | | plus |
Gene size | | 31843 bp |
Gene sequence |
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OMIM ID | | 604780 |