KRT14 Chromosome 17
Keratin 14
Upload your DNA to see your personal genotypes for variants in KRT14.
What This Gene Does
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000186847
Associated Conditions (19)
Epidermolysis bullosa simplex 1D
generalized
intermediate or severe
autosomal recessive
6 conditions
Epidermolysis bullosa simplex 1A
generalized severe
KRT14-related disorder
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex 1C
localized
Epidermolysis bullosa simplex
Koebner type
Naegeli-Franceschetti-Jadassohn syndrome
Palmoplantar blistering
Skin fragility with non-scarring blistering
Sjögren-Larsson syndrome
Abnormality of the skin
Inborn genetic diseases
Key Variants
RS201069984
Conflicting classifications of pathogenicity
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe
Health Risk
RS1064794983
Likely pathogenic
Health Risk
RS1555571799
Likely pathogenic
Health Risk
RS1567738332
Likely pathogenic
Health Risk
RS1597798429
Likely pathogenic
Health Risk
RS200779504
Likely pathogenic
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe
Health Risk
RS2508734157
Likely pathogenic
Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 1A
Health Risk
RS267607398
Likely pathogenic
Health Risk
RS267607401
Likely pathogenic
Health Risk
RS28928893
Likely pathogenic
Epidermolysis bullosa simplex 1A, generalized severe, KRT14-related disorder
Health Risk
RS56974573
Likely pathogenic
Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1C
Health Risk
RS58645163
Likely pathogenic
6 conditions, 6 conditions
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS60399023 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex |
| RS60470268 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS60725382 | Health Risk | Pathogenic | Epidermolysis bullosa simplex 1D, generalized, intermediate or severe |
| RS61027685 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS61221088 | Health Risk | Pathogenic | — |
| RS61664582 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Koebner type, Epidermolysis bullosa simplex |
| RS764842172 | Health Risk | Pathogenic | — |
| RS773920224 | Health Risk | Pathogenic | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex |
| RS58393329 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex 1A |
| RS61263401 | Health Risk | Pathogenic/Likely pathogenic | Epidermolysis bullosa simplex, Koebner type, Dermatopathia pigmentosa reticularis |
| RS778867001 | Health Risk | Pathogenic/Likely pathogenic | — |