ABHD5

ABHD5
Abhydrolase domain containing 5
Identifiers
Symbols ABHD5; CDS; CGI58; IECN2; MGC8731; NCIE2
External IDs OMIM604780 MGI1914719 HomoloGene41088 GeneCards: ABHD5 Gene
EC number 2.3.1.51
RNA expression pattern
PBB GE ABHD5 213805 at tn.png
PBB GE ABHD5 218739 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51099 67469
Ensembl ENSG00000011198 ENSMUSG00000032540
UniProt Q8WTS1 Q922Z5
RefSeq (mRNA) NM_016006 NM_026179.2
RefSeq (protein) NP_057090 NP_080455.1
Location (UCSC) Chr 3:
43.73 – 43.78 Mb
Chr 9:
122.26 – 122.29 Mb
PubMed search [1] [2]

1-acylglycerol-3-phosphate O-acyltransferase ABHD5 is an enzyme that in humans is encoded by the ABHD5 gene.[1][2][3]

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.[3]

References

  1. ^ Lefevre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, Lakhdar H, Wollenberg A, Verret JL, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J (Oct 2001). "Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome". Am J Hum Genet 69 (5): 1002–12. doi:10.1086/324121. PMC 1274347. PMID 11590543. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1274347. 
  2. ^ Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R (Sep 2008). "CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid". J Biol Chem 283 (36): 24525–33. doi:10.1074/jbc.M801783200. PMID 18606822. 
  3. ^ a b "Entrez Gene: ABHD5 abhydrolase domain containing 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51099. 

Further reading





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