Search for a gene
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: -
- 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
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.