DISEASES

Disease-gene associations mined from literature

Literature associating ENTPD1 and immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

ENTPD1 [ENSP00000360250]

Ectonucleoside triphosphate diphosphohydrolase 1; In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well; Belongs to the GDA1/CD39 NTPase family.

Synonyms:  ENTPD1,  ENTPD1p,  hENTPD1,  P49961,  CD39 ...

Linkouts:  STRING  Pharos  UniProt  OMIM