ENTPD1
LOCUS ID953
GENE_SYMBOLENTPD1
GENE NAMEectonucleoside triphosphate diphosphohydrolase 1
SYNONYMNSCD39, SPG64, ATPDase, NTPDase-1
CHROMOSOME10
HOMOLOGENE ID20423
microRNAsNANA
GENE SUMMARY
The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. In humans, CD39 polymorphisms have been associated with diabetes and nephropathy, and multiple sclerosis patients have reduced numbers of blood CD39(+) Tregs. CD39 degrades the extracellular adenosine triphosphate (ATP) released during tissue injury, which otherwise would trigger inflammation. 2. ENTPD1 polymorphisms appear to influence susceptibility to type 2 diabetes and/or diabetic nephropathy in African Americans. Studies in human cell lines and in vivo mouse data support a potential role for ENTPD1 genetic variation in susceptibility to type 2 diabetes.20153159, 21198320
Atherosclerosis1. However, no treatment option for atherosclerosis-associated endothelial dysfunction, which is accompanied by a loss of CD39, is available, and hence, adverse effects like thromboembolism and restenosis may occur.26381750