PLCZ1

Chr 12AR

phospholipase C zeta 1

Also known as: Czeta, NYD-SP27, PLC-zeta-1, PLCzeta, SPGF17

NCBI Gene: 89869 ENSG00000139151 UniProt: Q86YW0 OMIM: 608075

This phospholipase C enzyme hydrolyzes phosphatidylinositol 4,5-bisphosphate to produce diacylglycerol and inositol 1,4,5-trisphosphate, and is essential for triggering calcium oscillations during oocyte activation and early embryonic development. Mutations cause spermatogenic failure 17, an autosomal recessive condition affecting male fertility. The gene shows minimal constraint against loss-of-function variants, consistent with its specialized reproductive function.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

OMIM ResearchGenerating clinical summary…