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.
References in periodicals archive ?
2,95) ABHD12 hydrolyzes lysophosphatidyl-serine (LysoPS), and is therefore referred to as LysoPS lipase.
2015) Immunomodulatory lyso-phosphatidylserines are regulated by ABHD16A and ABHD12 interplay.
2013) ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC.
Forty-five genes implicated in the CC, including 29 nonsyndromic cataract genes ( AGK , BEST1 , BFSP1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , FYCO1 , GJA3 , GJA8 , HSF4 , P3H2 , LIM2 , MAF , MIP , NHS , PITX3 , SLC16A12 , TDRD7 , and VIM ) and 16 syndromic cataract genes ( ABHD12 , CNBP , CTDP1 , EYA1 , FTL , GALK1 , GCNT2 , GFER , GJA1 , JAM3 , OPA3 , PAX6 , RAB3GAP2 , SIL1 , SIX6 , and SLC33A1 ), were collected from careful literature and database search.
39)) Interestingly, a neurodegenerative disease named PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract) is caused by mutations in the ABHD12 gene, indicating that ABHD12 plays important roles in the central and peripheral nervous systems and the eye.
2010) Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.