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.
ABHD12; abhydrolase domain containing 12; C20orf22, chromosome 20 open reading frame 22; monoacylglycerol lipase ABHD12; ABHD12A; BEM46L2; dJ965G21.2; DKFZP434P106; 2-arachidonoylglycerol hydrolase; abhydrolase domain-containing protein 12; PHARC; C20orf22; DKFZp434P106;