ZP3 Chromosome 7

Zona pellucida glycoprotein 3
5 variants 5 Health Risk

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What This Gene Does
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 protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a 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. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Zona pellucida glycoproteins
Locus Type
gene with protein product
Location
7q11.23
Ensembl
ENSG00000188372
Associated Conditions (3)
Oocyte maturation defect 3
Empty follicle syndrome
Empty ovarian follicle
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS2115882062 Health Risk Likely pathogenic Oocyte maturation defect 3, Oocyte maturation defect 3
RS1375640377 Health Risk Pathogenic Oocyte maturation defect 3, Oocyte maturation defect 3
RS1554625334 Health Risk Pathogenic Empty follicle syndrome, Oocyte maturation defect 3, Empty follicle syndrome
RS1805920281 Health Risk Pathogenic
RS2115914145 Health Risk Pathogenic Empty ovarian follicle, Empty ovarian follicle
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