ZP4 zona pellucida glycoprotein 4
Gene ID: 57829, updated on 2-Nov-2024Gene type: protein coding
Also known as: ZBP; ZP1; ZPB; ZP1B; ZPB2; Zp-4
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- Go to complete Gene record for ZP4
- Go to Variation Viewer for ZP4 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. GeneReviews: Not available | |
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available |
Genomic context
- Location:
- 1q43
- Sequence:
- Chromosome: 1; NC_000001.11 (237882404..237890922, complement)
- Total number of exons:
- 12
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ZP4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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