ABHD12

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]

Description

abhydrolase domain containing 12

Protein family

Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Chromosome

20:p11.21 (25275379 - 25371619)

Ensembl ID

ENSG00000100997  (ver. 71.37)

Orthologs

Mouse Abhd12: ENSMUSG00000032046

Human splice variants
Mouse splice variants