GJA1 Chromosome 6
Gap junction protein alpha 1
Upload your DNA to see your personal genotypes for variants in GJA1.
What This Gene Does
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]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
6q22.31
Ensembl
ENSG00000152661
Associated Conditions (27)
Atrioventricular septal defect and common atrioventricular junction
Hypoplastic left heart syndrome 1
Oculodentodigital dysplasia
autosomal recessive
Syndactyly type 3
6 conditions
GJA1-related disorder
Sarcoma
Lymphoma
Familial cancer of breast
Thymoma
Nonpapillary renal cell carcinoma
Lung cancer
Cervical cancer
Uterine corpus endometrial carcinoma
Gastric cancer
Ovarian cancer
Craniometaphyseal dysplasia
Inborn genetic diseases
7 conditions
+7 more conditions
Key Variants
RS104893965
Conflicting classifications of pathogenicity
Atrioventricular septal defect and common atrioventricular junction, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
Health Risk
RS111581053
Conflicting classifications of pathogenicity
Syndactyly type 3, Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1
Health Risk
RS139128953
Conflicting classifications of pathogenicity
Oculodentodigital dysplasia, Syndactyly type 3, Hypoplastic left heart syndrome 1
Health Risk
RS145215218
Conflicting classifications of pathogenicity
Syndactyly type 3, Oculodentodigital dysplasia, autosomal recessive
Health Risk
RS148384161
Conflicting classifications of pathogenicity
Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
Health Risk
RS2227885
Conflicting classifications of pathogenicity
Hypoplastic left heart syndrome 1, Atrioventricular septal defect and common atrioventricular junction, Oculodentodigital dysplasia
Health Risk
RS376074787
Conflicting classifications of pathogenicity
Oculodentodigital dysplasia, autosomal recessive, Syndactyly type 3
Health Risk
RS539558089
Conflicting classifications of pathogenicity
Hypoplastic left heart syndrome 1, Syndactyly type 3, Oculodentodigital dysplasia
Health Risk
RS56199702
Conflicting classifications of pathogenicity
Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3
Health Risk
RS575593821
Conflicting classifications of pathogenicity
Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia, Syndactyly type 3
Health Risk
RS57946868
Conflicting classifications of pathogenicity
Syndactyly type 3, Oculodentodigital dysplasia, Hypoplastic left heart syndrome 1
Health Risk
RS72548741
Conflicting classifications of pathogenicity
Syndactyly type 3, Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2114283819 | Health Risk | Pathogenic | Oculodentodigital dysplasia, Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS2536821902 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2536821904 | Health Risk | Pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS267606844 | Health Risk | Pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS28931600 | Health Risk | Pathogenic | Syndactyly type 3, Syndactyly type 3 |
| RS28931601 | Health Risk | Pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS387906616 | Health Risk | Pathogenic | Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS397518464 | Health Risk | Pathogenic | Oculodentodigital dysplasia, Oculodentodigital dysplasia |
| RS864309644 | Health Risk | Pathogenic | Autosomal dominant palmoplantar keratoderma and congenital alopecia, Autosomal dominant palmoplantar keratoderma and congenital alopecia |
| RS104893964 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS1554200990 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Oculodentodigital dysplasia, autosomal recessive |
| RS1554200995 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS1554201018 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS1773898476 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1773899790 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |
| RS794729675 | Health Risk | Pathogenic/Likely pathogenic | Erythrokeratodermia variabilis et progressiva 3, Oculodentodigital dysplasia, autosomal recessive |
| RS962041031 | Health Risk | Pathogenic/Likely pathogenic | Oculodentodigital dysplasia, autosomal recessive, Oculodentodigital dysplasia |