DISEASES

Disease-gene associations mined from literature

Literature associating PLCB1 and West syndrome

PLCB1 [ENSP00000338185]

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-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; C2 domain containing phospholipases

Synonyms:  PLCB1,  PLCB1p,  hPLCB1,  B1AK73,  Q8IV91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM