ENTPD6 Summary

ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

ENTPD6 Details

Gene Symbol : ENTPD6

Gene Name : Ectonucleoside triphosphate diphosphohydrolase 6 (putative)

Chromosome : CHR 20: 251,956,69-252,280,74

Locus : 20p11.21

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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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