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Gene : ABHD12 Homo sapiens

Name  ? abhydrolase domain containing 12, lysophospholipase Cytological Location  20p11.21
Brief Description  abhydrolase domain containing 12, lysophospholipase
Description  This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
  • synonyms:
  • OTTHUMG00000032121,
  • C20orf22,
  • uc002wus.3,
  • abhydrolase domain containing 12,
  • NM_015600,
  • ABHD12A,
  • AL117442,
  • dJ965G21.2,
  • chromosome 20 open reading frame 22,
  • DKFZP434P106,
  • HGNC:15868,
  • PHARC,
  • ABHD12A,
  • dJ965G21.2,
  • BEM46L2,
  • C20orf22,
  • ABHD12,
  • hABHD12,
  • BEM46L2
  • identifiers:
  • 26090,
  • ENSG00000100997,
  • ABHD12

Genome feature

Region: gene ? Length: 96093  
Location: 20:25294743-25390835 reverse strand Cyto location: 20p11.21


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results