GJA1 gap junction protein alpha 1
Gene info
Synonyms
CX43, ODD, ODOD, SDTY3
Previous symbol
ODDD, GJAL
External ID
HGNC: 4274
Entrez Gene: 2697
Ensembl: ENSG00000152661
UCSC: uc003pyr.4
OMIM:
121014
UniProtKB:
P17302
Disease info
Disease
CHD Phenotype
- Ventricular septal defect
- Pulmonary atresia
- Tricuspid stenosis
- Hypoplastic rv
- Hypoplastic left heart syndrome
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
Homozygous null mouse has CHD
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for GJA1: BED file
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Selected References
- Dasgupta, C., Martinez, A.-M., Zuppan, C. W., Shah, M. M., Bailey, L. L., & Fletcher, W. H. (2001). Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 479(1–2), 173–186. https://doi.org/10.1016/s0027-5107(01)00160-9 DOI:10.1016/S0027-5107(01)00160-9
- Britz-Cunningham, S. H., Shah, M. M., Zuppan, C. W., & Fletcher, W. H. (1995). Mutations of theConnexin43Gap-Junction Gene in Patients with Heart Malformations and Defects of Laterality. New England Journal of Medicine, 332(20), 1323–1330. https://doi.org/10.1056/nejm199505183322002 DOI:10.1056/NEJM199505183322002 PMID:7715640