KRT6A Chromosome 12
Keratin 6A
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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. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
Keratins, type II
Locus Type
gene with protein product
Location
12q13.13
Ensembl
ENSG00000205420
Associated Conditions (1)
Pachyonychia congenita 3
Key Variants
RS371739150
Conflicting classifications of pathogenicity
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS113369052
Likely pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS2498486538
Likely pathogenic
Health Risk
RS2498491241
Likely pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS267607468
Likely pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS57126929
Likely pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS1064793417
Pathogenic
Health Risk
RS1318088507
Pathogenic
Health Risk
RS267607462
Pathogenic
Health Risk
RS267607463
Pathogenic
Health Risk
RS267607464
Pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
RS28933087
Pathogenic
Pachyonychia congenita 3, Pachyonychia congenita 3
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS371739150 | Health Risk | Conflicting classifications of pathogenicity | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS113369052 | Health Risk | Likely pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS2498486538 | Health Risk | Likely pathogenic | — |
| RS2498491241 | Health Risk | Likely pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS267607468 | Health Risk | Likely pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS57126929 | Health Risk | Likely pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS1064793417 | Health Risk | Pathogenic | — |
| RS1318088507 | Health Risk | Pathogenic | — |
| RS267607462 | Health Risk | Pathogenic | — |
| RS267607463 | Health Risk | Pathogenic | — |
| RS267607464 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS28933087 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS57052654 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS57448541 | Health Risk | Pathogenic | — |
| RS58556099 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS59685571 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS606231214 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS61145796 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS62635294 | Health Risk | Pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |
| RS57629991 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS60554162 | Health Risk | Pathogenic/Likely pathogenic | Pachyonychia congenita 3, Pachyonychia congenita 3 |