ZP1 Chromosome 11
Zona pellucida glycoprotein 1
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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 ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Zona pellucida glycoproteins
Locus Type
gene with protein product
Location
11q12.2
Ensembl
ENSG00000149506
Associated Conditions (3)
Inborn genetic diseases
Female infertility due to zona pellucida defect
Oocyte maturation defect 3
Key Variants
RS140966353
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS773898067
Conflicting classifications of pathogenicity
Female infertility due to zona pellucida defect, Inborn genetic diseases, Female infertility due to zona pellucida defect
Health Risk
RS1590594352
Likely pathogenic
Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
Health Risk
RS1307369466
Pathogenic
Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
Health Risk
RS1590594990
Pathogenic
Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
Health Risk
RS587777362
Pathogenic
Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
Health Risk
RS763617076
Pathogenic
Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
Health Risk
RS769509601
Pathogenic
Oocyte maturation defect 3, Oocyte maturation defect 3
Health Risk
RS776515172
Pathogenic
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140966353 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS773898067 | Health Risk | Conflicting classifications of pathogenicity | Female infertility due to zona pellucida defect, Inborn genetic diseases, Female infertility due to zona pellucida defect |
| RS1590594352 | Health Risk | Likely pathogenic | Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect |
| RS1307369466 | Health Risk | Pathogenic | Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect |
| RS1590594990 | Health Risk | Pathogenic | Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect |
| RS587777362 | Health Risk | Pathogenic | Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect |
| RS763617076 | Health Risk | Pathogenic | Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect |
| RS769509601 | Health Risk | Pathogenic | Oocyte maturation defect 3, Oocyte maturation defect 3 |
| RS776515172 | Health Risk | Pathogenic | — |