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Gene : ABHD5 Homo sapiens

Name  ? abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Cytological Location  3p21.33
Brief Description  abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Description  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, Jul 2008]
  • synonyms:
  • HGNC:21396,
  • NCIE2,
  • NCIE2,
  • CGI-58,
  • ABHD5,
  • NM_016006,
  • uc003cmx.4,
  • OTTHUMG00000133039,
  • AF007132,
  • abhydrolase domain containing 5,
  • CGI58,
  • IECN2
  • identifiers:
  • 51099,
  • ENSG00000011198,
  • ABHD5

Genome feature

Region: gene ? Length: 43502  
Location: 3:43690870-43734371 Cyto location: 3p21.33


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SNPs

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Disease

1 Diseases

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744 SN Ps

5 Cross References

19 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results