DISEASES

Disease-gene associations mined from literature

Literature associating ENTPD6 and retinitis pigmentosa 4

ENTPD6 [ENSP00000365840]

Ectonucleoside triphosphate diphosphohydrolase 6 (putative); Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5'-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity); Belongs to the GDA1/CD39 NTPase family.

Synonyms:  ENTPD6,  ENTPD6p,  hENTPD6,  O75354,  Q5QPI7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM