ABHD12
ABHD12
A 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.Molecular pathology
ABHD12 mutations are associated with PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract), a neurodegenerative disease.