KRT16 Chromosome 17
Keratin 16
Upload your DNA to see your personal genotypes for variants in KRT16.
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 and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Keratins, type I
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000186832
Associated Conditions (8)
KRT16-related disorder
Inborn genetic diseases
Pachyonychia congenita 1
Palmoplantar keratoderma
epidermolytic
Malignant tumor of urinary bladder
nonepidermolytic
focal 1
Key Variants
RS139974035
Conflicting classifications of pathogenicity
KRT16-related disorder, Inborn genetic diseases, KRT16-related disorder
Health Risk
RS142750223
Conflicting classifications of pathogenicity
Pachyonychia congenita 1, Palmoplantar keratoderma, epidermolytic
Health Risk
RS145649029
Conflicting classifications of pathogenicity
Inborn genetic diseases, KRT16-related disorder, Inborn genetic diseases
Health Risk
RS147423442
Conflicting classifications of pathogenicity
Pachyonychia congenita 1, KRT16-related disorder, Malignant tumor of urinary bladder
Health Risk
RS151282702
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS59328451
Conflicting classifications of pathogenicity
Pachyonychia congenita 1, Pachyonychia congenita 1
Health Risk
RS758953756
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, nonepidermolytic, focal 1
Health Risk
RS778174614
Conflicting classifications of pathogenicity
Health Risk
RS2508756879
Likely pathogenic
Palmoplantar keratoderma, nonepidermolytic, focal 1
Health Risk
RS59349773
Likely pathogenic
Pachyonychia congenita 1, Pachyonychia congenita 1, Pachyonychia congenita 1
Health Risk
RS1555573633
Pathogenic
Palmoplantar keratoderma, nonepidermolytic, focal 1
Health Risk
RS28928894
Pathogenic
Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139974035 | Health Risk | Conflicting classifications of pathogenicity | KRT16-related disorder, Inborn genetic diseases, KRT16-related disorder |
| RS142750223 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 1, Palmoplantar keratoderma, epidermolytic |
| RS145649029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, KRT16-related disorder, Inborn genetic diseases |
| RS147423442 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 1, KRT16-related disorder, Malignant tumor of urinary bladder |
| RS151282702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS59328451 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS758953756 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| RS778174614 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2508756879 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| RS59349773 | Health Risk | Likely pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS1555573633 | Health Risk | Pathogenic | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| RS28928894 | Health Risk | Pathogenic | Pachyonychia congenita 1, Palmoplantar keratoderma, nonepidermolytic |
| RS28928895 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS57424749 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS58181827 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS58608173 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS587777717 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS59856285 | Health Risk | Pathogenic | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| RS60723330 | Health Risk | Pathogenic | Palmoplantar keratoderma, nonepidermolytic, focal 1 |
| RS60944949 | Health Risk | Pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1 |
| RS58293603 | Health Risk | Pathogenic/Likely pathogenic | Pachyonychia congenita 1, Pachyonychia congenita 1, Palmoplantar keratoderma |