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B001/B101
Shirley, MA 01464
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20700 44th Avenue W
Lynnwood, WA 98036
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ABHD12
Abhydrolase Domain Containing 12
ABHD12 is 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.
| Gene Name: | Abhydrolase Domain Containing 12 |
| Synonyms: | ABHD12, ABHD12A, BEM46L2, C20orf22, DKFZP434P106, PHARC, DJ965G21.2, Monoacylglycerol lipase ABHD12 |
| Target Sequences: | NM_001042472 NP_001035937.1 Q8N2K0 |
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