GJA1
Cardiovascular System · Cardiac Electrophysiology & Conduction
How does GJA1 let neighboring cells communicate?
GJA1 makes connexin 43, which forms small channels between adjoining cells. These channels pass ions and other small molecules, helping tissues coordinate their activity.
- Common Gene Name
- gap junction protein alpha 1
- NCBI Gene ID
- 2697
- Chromosome
- 6
Clinical Evidence Status
Disease evidence limited or conflicting
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (8 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| congenital heart disease | ClinGen gene-disease validity | Limited | UD | View source 2024-06-04 |
| nonsyndromic genetic hearing loss | ClinGen gene-disease validity | Disputed | Autosomal dominant | View source 2022-03-16 |
| Craniometaphyseal dysplasia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 | |
| Oculodentodigital dysplasia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 | |
| Anophthalmia/Microphthalmia | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 | |
| Coloboma | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 | |
| Critical congenital heart disease | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 | |
| Erythrokeratodermia variabilis et progressiva | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2025-03 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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