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GJA1 - gap junction protein alpha 1
- Synonym(s) : connexin 43, CX43, oculodentodigital dysplasia (syndactyly type III), ODD, ODOD, SDTY3
- Previous symbols and names : GJAL, ODDD, gap junction protein, alpha 1, 43kDa, gap junction protein, alpha 1, 43kDa (connexin 43), gap junction protein, alpha-like
- Type : gene with protein product
- Chromosomal location : 6q22.31
- OMIM: 121014
- HGNC: 4274
- UniProtKB: P17302
- Genatlas: GJA1
- Ensembl: ENSG00000152661
- IUPHAR-DB: 728
- Reactome: P17302
- LOVD: GJA1
Diseases list
- Disease-causing germline mutation(s) in Craniometaphyseal dysplasia
ORPHA:1522 
- Disease-causing germline mutation(s) in Erythrokeratodermia variabilis
ORPHA:317 - Disease-causing germline mutation(s) in Oculodentodigital dysplasia
ORPHA:2710 - Disease-causing germline mutation(s) in Syndactyly type 3
ORPHA:93404 - Disease-causing germline mutation(s) (gain of function) in Autosomal dominant palmoplantar keratoderma and congenital alopecia
ORPHA:1010 - Major susceptibility factor in Hypoplastic left heart syndrome
ORPHA:2248 - Candidate gene tested in Autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Patient-centred resources for this gene
Research activities on this gene
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