GJA3 gap junction protein alpha 3
Gene ID: 2700, updated on 5-Mar-2024Gene type: protein coding
Also known as: CX46; CZP3; CTRCT14
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- Go to complete Gene record for GJA3
- Go to Variation Viewer for GJA3 variants
Summary
The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cataract 14 multiple types | See labs |
| Identification of novel germline polymorphisms governing capecitabine sensitivity. GeneReviews: Not available |
Genomic context
- Location:
- 13q12.11
- Sequence:
- Chromosome: 13; NC_000013.11 (20138255..20161565, complement)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GJA3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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