KRT10 Chromosome 17
Keratin 10
Upload your DNA to see your personal genotypes for variants in KRT10.
What This Gene Does
This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000186395
Associated Conditions (17)
Congenital reticular ichthyosiform erythroderma
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
KRT10-related disorder
Ichthyosis
annular epidermolytic 1
Epidermolytic hyperkeratosis 2A
autosomal dominant
Epidermolytic hyperkeratosis 2B
autosomal recessive
Ichthyosis hystrix gravior
Inborn genetic diseases
Epidermolytic hyperkeratosis 1
Ichthyosis and erythrokeratoderma
Epidermolytic acanthoma
Epidermolytic nevus
Autosomal dominant epidermolytic ichthyosis
Key Variants
RS148510452
Conflicting classifications of pathogenicity
Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Epidermolytic ichthyosis
Health Risk
RS570853437
Conflicting classifications of pathogenicity
KRT10-related disorder, KRT10-related disorder
Health Risk
RS752563839
Conflicting classifications of pathogenicity
KRT10-related disorder, Congenital reticular ichthyosiform erythroderma, Ichthyosis
Health Risk
RS753095095
Conflicting classifications of pathogenicity
Health Risk
RS753205769
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS755924637
Conflicting classifications of pathogenicity
Health Risk
RS776920005
Conflicting classifications of pathogenicity
Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Epidermolytic ichthyosis
Health Risk
RS1597822243
Likely pathogenic
Epidermolytic ichthyosis, Epidermolytic ichthyosis
Health Risk
RS2143131560
Likely pathogenic
Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma, Epidermolytic hyperkeratosis 2A
Health Risk
RS2143150768
Likely pathogenic
Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma
Health Risk
RS2143150923
Likely pathogenic
Health Risk
RS1555548670
Pathogenic
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148510452 | Health Risk | Conflicting classifications of pathogenicity | Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Epidermolytic ichthyosis |
| RS570853437 | Health Risk | Conflicting classifications of pathogenicity | KRT10-related disorder, KRT10-related disorder |
| RS752563839 | Health Risk | Conflicting classifications of pathogenicity | KRT10-related disorder, Congenital reticular ichthyosiform erythroderma, Ichthyosis |
| RS753095095 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753205769 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755924637 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776920005 | Health Risk | Conflicting classifications of pathogenicity | Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Epidermolytic ichthyosis |
| RS1597822243 | Health Risk | Likely pathogenic | Epidermolytic ichthyosis, Epidermolytic ichthyosis |
| RS2143131560 | Health Risk | Likely pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma, Epidermolytic hyperkeratosis 2A |
| RS2143150768 | Health Risk | Likely pathogenic | Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma |
| RS2143150923 | Health Risk | Likely pathogenic | — |
| RS1555548670 | Health Risk | Pathogenic | — |
| RS2143130756 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma |
| RS2143133654 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma |
| RS267607379 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2B, autosomal recessive, Epidermolytic hyperkeratosis 2B |
| RS267607381 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2B, autosomal recessive, Epidermolytic hyperkeratosis 2B |
| RS267607384 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, KRT10-related disorder, Congenital reticular ichthyosiform erythroderma |
| RS387906640 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2B, autosomal recessive, Epidermolytic hyperkeratosis 2B |
| RS57784225 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2A, autosomal dominant, Epidermolytic hyperkeratosis 2A |
| RS58026994 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2A, autosomal dominant, Epidermolytic hyperkeratosis 2A |
| RS58075662 | Health Risk | Pathogenic | Epidermolytic ichthyosis, KRT10-related disorder, Epidermolytic hyperkeratosis 2A |
| RS58414354 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2A, autosomal dominant, Epidermolytic hyperkeratosis 2A |
| RS587776815 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma |
| RS587776816 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma |
| RS587776817 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Congenital reticular ichthyosiform erythroderma |
| RS58852768 | Health Risk | Pathogenic | Congenital reticular ichthyosiform erythroderma, Annular epidermolytic ichthyosis, Epidermolytic ichthyosis |
| RS58901407 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2A, autosomal dominant, Epidermolytic hyperkeratosis 2A |
| RS59075499 | Health Risk | Pathogenic | Annular epidermolytic ichthyosis, Annular epidermolytic ichthyosis |
| RS59175042 | Health Risk | Pathogenic | — |
| RS60035576 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2B, autosomal recessive, Epidermolytic hyperkeratosis 2B |
| RS60118264 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 2A, autosomal dominant, Epidermolytic hyperkeratosis 2A |
| RS61434181 | Health Risk | Pathogenic | Epidermolytic hyperkeratosis 1, Epidermolytic hyperkeratosis 1 |
| RS61460100 | Health Risk | Pathogenic | — |
| RS62651994 | Health Risk | Pathogenic | Ichthyosis, annular epidermolytic 1, Ichthyosis |
| RS2143133897 | Health Risk | Pathogenic/Likely pathogenic | — |