GJA4 Chromosome 1
Gap junction protein alpha 4
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What This Gene Does
This gene encodes 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. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1p34.3
Ensembl
ENSG00000187513
Associated Conditions (3)
Cutaneous venous malformation
Hepatic hemangioma
Skin hemangioma
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1640240555 | Health Risk | Pathogenic | Cutaneous venous malformation, Hepatic hemangioma, Skin hemangioma |