DISEASES

Disease-gene associations mined from literature

Literature associating INPP5E and Bardet-Biedl syndrome

INPP5E [ENSP00000360777]

Phosphatidylinositol polyphosphate 5-phosphatase type IV; Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5- bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates; Phosphoinositide phosphatases

Synonyms:  INPP5E,  INPP5Ep,  hINPP5E,  Q2YD81,  Q9NRR6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM