DISEASES

Disease-gene associations mined from literature

Literature associating PLCE1 and familial nephrotic syndrome

PLCE1 [ENSP00000360431]

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine- exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation; C2 domain containing phospholipases

Synonyms:  PLCE1,  PLCE1p,  hPLCE1,  B7ZM61,  Q9P212 ...

Linkouts:  STRING  Pharos  UniProt