KRT13 Chromosome 17
Keratin 13
Upload your DNA to see your personal genotypes for variants in KRT13.
What This Gene Does
The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Mutations in this gene and keratin 4 have been associated with the autosomal dominant disorder White Sponge Nevus. The type I cytokeratins are clustered in a region of chromosome 17q21.2. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000171401
Associated Conditions (2)
White sponge nevus 2
Inborn genetic diseases
Key Variants
RS140780704
Conflicting classifications of pathogenicity
White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2
Health Risk
RS145983286
Conflicting classifications of pathogenicity
White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2
Health Risk
RS148102980
Conflicting classifications of pathogenicity
White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2
Health Risk
RS202057977
Conflicting classifications of pathogenicity
White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2
Health Risk
RS59897026
Pathogenic
White sponge nevus 2, White sponge nevus 2
Health Risk
RS60440396
Pathogenic
White sponge nevus 2, White sponge nevus 2
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140780704 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2 |
| RS145983286 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2 |
| RS148102980 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2 |
| RS202057977 | Health Risk | Conflicting classifications of pathogenicity | White sponge nevus 2, Inborn genetic diseases, White sponge nevus 2 |
| RS59897026 | Health Risk | Pathogenic | White sponge nevus 2, White sponge nevus 2 |
| RS60440396 | Health Risk | Pathogenic | White sponge nevus 2, White sponge nevus 2 |