ABHD12
abhydrolase domain containing 12
Synonyms:
ABHD12A, BEM46L2, C20orf22, PHARC, dJ965G21.2
Species:
Human ABHD12 (26090), Mouse Abhd12 (76192), Rat Abhd12 (499913), chicken ABHD12 (421249), Zebrafish abhd12 (767657), sheep ABHD12 (101106539), cow ABHD12 (768242), domestic cat ABHD12 (101091357), dog ABHD12 (477004), naked mole-rat Abhd12 (101716415)
UniProtKB ID:
Gene ID:
- Human(26090) Summary: 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]
- Mouse(76192) abhydrolase domain containing 12
- Rat(499913) abhydrolase domain containing 12
- chicken(421249) abhydrolase domain containing 12
- Zebrafish(767657) abhydrolase domain containing 12
- sheep(101106539) abhydrolase domain containing 12
- cow(768242) abhydrolase domain containing 12
- domestic cat(101091357) abhydrolase domain containing 12
- dog(477004) abhydrolase domain containing 12
- naked mole-rat(101716415) abhydrolase domain containing 12
- domestic guinea pig(100729841) abhydrolase domain containing 12
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