Disease-gene associations mined from literature

Literature associating ENTPD5 and Lutembacher's syndrome

ENTPD5 [ENSP00000335246]

Ectonucleoside triphosphate diphosphohydrolase 5; Uridine diphosphatase (UDPase) that promotes protein N- glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling; Belongs to the GDA1/CD39 NTPase family.

Synonyms:  ENTPD5,  ENTPD5p,  hENTPD5,  A0A024R6D3,  G3V3Y0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM