Disease-gene associations mined from literature

Literature associating PITPNM1 and cone-rod dystrophy 5

PITPNM1 [ENSP00000348772]

Phosphatidylinositol transfer protein, membrane-associated 1; Regulates RHOA activity, and plays a role in cytoskeleton remodeling. Necessary for normal completion of cytokinesis. Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus. Binds phosphatidyl inositol phosphates (in vitro). May catalyze the transfer of phosphatidylinositol and phosphatidylcholine between membranes (By similarity). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus. Required for protein export from the endoplasmic reticulum and the Golgi. Binds calcium ions.

Synonyms:  PITPNM1,  PITPNM1p,  hPITPNM1,  A0A024R5I7,  E9PMS0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM