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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ABHD5 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID51099
Official gene symbolABHD5
Full nameabhydrolase domain containing 5
Aliases,CDS,CGI58,IECN2,MGC8731,NCIE2,
Gene summaryThe 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]
LocationChromosome: 3   Locus: 3p21
Gene position43732375 - 43764217  Map Viewer
Gene orientationplus
Gene size31843 bp
Gene sequence
OMIM ID604780