DISEASES

Disease-gene associations mined from literature

Literature associating PLCZ1 and infertility

PLCZ1 [ENSP00000266505]

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-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. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)- dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg- activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function; C2 domain containing phospholipases

Synonyms:  PLCZ1,  PLCZ1p,  hPLCZ1,  C9IZ68,  F5GYE4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM