ABHD12(redirected from OTTHUMP00000030492)
ABHD12A gene on chromosome 20p11.21 that encodes an enzyme that catalyses the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2.
ABHD12 mutations are associated with PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract), a neurodegenerative disease.
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