DISEASES

Disease-gene associations mined from literature

Literature on INPP5E

INPP5E [ENSP00000360777]

Phosphatidylinositol polyphosphate 5-phosphatase type IV; Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity). Specific for lipid substrates, inactive towards water soluble inositol phosphates . Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity); Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.

Synonyms:  INPP5E,  INPP5Ep,  hINPP5E,  Q9NRR6,  Q9NRR6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM