ZP4

Chr 1

zona pellucida glycoprotein 4

Also known as: ZBP, ZP1, ZP1B, ZPB, ZPB2, Zp-4

NCBI Gene: 57829 ENSG00000116996 UniProt: Q12836 OMIM: 613514

ZP4 encodes a glycoprotein component of the zona pellucida, an extracellular matrix surrounding oocytes that mediates sperm binding and prevents polyspermy after fertilization. Mutations cause female infertility due to oocyte maturation defects, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants, consistent with its specific role in reproductive function rather than essential developmental processes.

OMIM ResearchSummary from RefSeq, UniProt

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 1.31

Clinical Summary— ZP4

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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