KRT3 Chromosome 12
Keratin 3
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What This Gene Does
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann's Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000186442
Associated Conditions (3)
Corneal dystrophy
Meesmann
2
Key Variants
RS187547495
Conflicting classifications of pathogenicity
Health Risk
RS200059777
Conflicting classifications of pathogenicity
Health Risk
RS368389807
Conflicting classifications of pathogenicity
Health Risk
RS762235173
Conflicting classifications of pathogenicity
Health Risk
RS76767665
Conflicting classifications of pathogenicity
Health Risk
RS2121217835
Likely pathogenic
Corneal dystrophy, Meesmann, 2
Health Risk
RS2498757244
Likely pathogenic
Corneal dystrophy, Meesmann, 2
Health Risk
RS267607431
Pathogenic
Corneal dystrophy, Meesmann, 2
Health Risk
RS57872071
Pathogenic
Corneal dystrophy, Meesmann, 2
Health Risk
RS60410063
Pathogenic
Corneal dystrophy, Meesmann, 2
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS187547495 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200059777 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368389807 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762235173 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS76767665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2121217835 | Health Risk | Likely pathogenic | Corneal dystrophy, Meesmann, 2 |
| RS2498757244 | Health Risk | Likely pathogenic | Corneal dystrophy, Meesmann, 2 |
| RS267607431 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 2 |
| RS57872071 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 2 |
| RS60410063 | Health Risk | Pathogenic | Corneal dystrophy, Meesmann, 2 |