GJA1 gap junction protein alpha 1
Gene ID: 2697, updated on 4-Jan-2025Gene type: protein coding
Also known as: HSS; CMDR; CX43; EKVP; GJAL; ODDD; AVSD3; EKVP3; HLHS1; PPKCA
- See all available tests in GTR for this gene
- Go to complete Gene record for GJA1
- Go to Variation Viewer for GJA1 variants
Summary
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| Autosomal dominant palmoplantar keratoderma and congenital alopecia | See labs |
| Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. GeneReviews: Not available | |
| Craniometaphyseal dysplasia, autosomal recessive | See labs |
| Erythrokeratodermia variabilis et progressiva 3 | See labs |
| Genome-wide association analysis identifies multiple loci related to resting heart rate. GeneReviews: Not available | |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available | |
| Oculodentodigital dysplasia | See labs |
| Oculodentodigital dysplasia, autosomal recessive | See labs |
| Syndactyly type 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-11-20) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-11-20) ClinGen Genome Curation Page |
Genomic context
- Location:
- 6q22.31
- Sequence:
- Chromosome: 6; NC_000006.12 (121435646..121449727)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GJA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GJA1 database
- Hereditary Hearing Loss Homepage
- 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
- The Connexin-deafness homepage
- Variation ViewerRelated Variants
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