GJA8 Chromosome 1
Gap junction protein alpha 8
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What This Gene Does
This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Gap junction proteins
Locus Type
gene with protein product
Location
1q21.2
Ensembl
ENSG00000121634
Associated Conditions (9)
Cataract 1 multiple types
GJA8-related disorder
Inborn genetic diseases
Anterior segment dysgenesis
Developmental cataract
acorea
microphthalmia and cataract syndrome
Microphthalmia
acorea-microphthalmia-cataract syndrome
Key Variants
RS150441169
Conflicting classifications of pathogenicity
Cataract 1 multiple types, GJA8-related disorder, Cataract 1 multiple types
Health Risk
RS1553242554
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cataract 1 multiple types, Inborn genetic diseases
Health Risk
RS1553242577
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS1651887395
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis
Health Risk
RS1651887603
Conflicting classifications of pathogenicity
Anterior segment dysgenesis, Cataract 1 multiple types, Anterior segment dysgenesis
Health Risk
RS1651918704
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS1651922680
Conflicting classifications of pathogenicity
GJA8-related disorder, GJA8-related disorder
Health Risk
RS1651940183
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2149015482
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2149015924
Conflicting classifications of pathogenicity
Developmental cataract, Cataract 1 multiple types, Developmental cataract
Health Risk
RS2524888276
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
RS2524889089
Conflicting classifications of pathogenicity
Cataract 1 multiple types, Cataract 1 multiple types
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2524888666 | Health Risk | Pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS782184691 | Health Risk | Pathogenic | Cataract 1 multiple types, Inborn genetic diseases, Cataract 1 multiple types |
| RS121434643 | Health Risk | Pathogenic/Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889379 | Health Risk | Pathogenic/Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524893038 | Health Risk | Pathogenic/Likely pathogenic | Cataract 1 multiple types, Inborn genetic diseases, Cataract 1 multiple types |
| RS864309688 | Health Risk | Pathogenic/Likely pathogenic | Developmental cataract, Cataract 1 multiple types, GJA8-related disorder |
| RS983216627 | Health Risk | Pathogenic/Likely pathogenic | Cataract 1 multiple types, Cataract 1 multiple types |