KRT6B Chromosome 12
Keratin 6B
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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. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. 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
ENSG00000185479
Associated Conditions (2)
Inborn genetic diseases
Pachyonychia congenita 4
Key Variants
RS137872925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146988096
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150021015
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200055232
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201956073
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202222264
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS750932643
Conflicting classifications of pathogenicity
Pachyonychia congenita 4, Pachyonychia congenita 4
Health Risk
RS764620689
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1131691901
Likely pathogenic
Health Risk
RS1592169234
Pathogenic
Pachyonychia congenita 4, Pachyonychia congenita 4
Health Risk
RS267607472
Pathogenic
Pachyonychia congenita 4, Pachyonychia congenita 4
Health Risk
RS60627726
Pathogenic
Pachyonychia congenita 4, Pachyonychia congenita 4
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137872925 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146988096 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150021015 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200055232 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201956073 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202222264 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS750932643 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS764620689 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1131691901 | Health Risk | Likely pathogenic | — |
| RS1592169234 | Health Risk | Pathogenic | Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS267607472 | Health Risk | Pathogenic | Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS60627726 | Health Risk | Pathogenic | Pachyonychia congenita 4, Pachyonychia congenita 4 |
| RS267607473 | Health Risk | Pathogenic/Likely pathogenic | Pachyonychia congenita 4, Pachyonychia congenita 4 |