Disease-gene associations mined from literature

Literature associating PLCL1 and SATB2-associated syndrome

PLCL1 [ENSP00000402861]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM