abhydrolase domain containing 12

Symbol

ABHD12 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
CG15111 Drosophila melanogaster
Abhd12 Mus musculus
abhd-12 Caenorhabditis elegans
Abhd12 Rattus norvegicus
abhd12 Danio rerio

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0016787 hydrolase activity molecular_function
GO:0047372 acylglycerol lipase activity molecular_function