DISEASES

Disease-gene associations mined from literature

Literature on C2CD2L

C2CD2L [ENSP00000338885]

Phospholipid transfer protein C2CD2L; Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane . It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling . Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers . In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane . Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules .

Synonyms:  C2CD2L,  C2CD2Lp,  hC2CD2L,  E9PK05,  O14523 ...

Linkouts:  STRING  Pharos  UniProt