Literature associating PLCL1 and SATB2-associated syndrome
Phospholipase C-related but catalytically inactive protein; Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and progression of lung carcinoma. Acts as an inhibitor of PPP1C; C2 domain containing phospholipases
Synonyms: PLCL1, PLCL1p, hPLCL1, F8WAR2, H3BUD4 ...