DISEASES

Disease-gene associations mined from literature

Literature associating PIP5K1B and Friedreich ataxia 2

PIP5K1B [ENSP00000265382]

Phosphatidylinositol-4-phosphate 5-kinase, type I, beta; Participates in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. Mediates RAC1-dependent reorganization of actin filaments. Contributes to the activation of PLD2. Together with PIP5K1A is required after stimulation of G-protein coupled receptors for stable platelet adhesion (By similarity).

Synonyms:  PIP5K1B,  PIP5K1Bp,  hPIP5K1B,  O14986,  Q7KYT4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM