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Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.

Reproduction & fertility - 1 Jan 2026

Kashir Junaid, Maddirevula Sateesh, Aldeery Meshael, Elbait Gihan Daw, Ramzan Khushnooda, Mistry Bhavesh V, Qubbaj Wafa, Nomikos Michail, Hamdan Hamdan, Alhassan Saad, Assiri Abdullah M, Coskun Serdar

Abstract excerpt

Abstract: Mammalian oocyte activation is driven by intracellular calcium (Ca2+) oscillations induced by sperm-specific phospholipase C zeta (PLCζ). Sperm PLCζ deficiency is linked to male infertility caused by oocyte activation deficiency. Using whole exome sequencing, we report finding a previously reported loss-of-activity pathogenic mutation of PLCZ1 from two unrelated males in a separate ethnicity, homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41818057
DOI: 10.1530/RAF-25-0085
PMCID: PMC13034560

Genes

PLCZ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Pathogenic homozygous PLCZ1 mutation reduces sperm protein levels with a simulated reduction of PIP2 binding: a case report.PMID 41818057Read ↗

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