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.
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.
(36)) A functional proteomic study has demonstrated that MGL accounts for ~85% of 2-AG hydrolysis, and that other enzymes, such as [alpha]/[beta] hydrolase domain 6 and 12 (ABHD6 and ABHD12), contributes to the hydrolysis of the remaining 15%.
(2010) Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.