ABHD12 Summary

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]

ABHD12 Details

Gene Symbol : ABHD12

Gene Name : Abhydrolase domain containing 12

Chromosome : CHR 20: 253,909,81-252,947,42

Locus : 20p11.21

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KIF16B Summary

The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

KIF16B Details

Gene Symbol : KIF16B

Gene Name : Kinesin family member 16B

Chromosome : CHR 20: 165,734,56-162,721,03

Locus : 20p12.1

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