KRT6C
Keratin 6C, a type II cytokeratin involved in epithelial integrity and wound healing
Gene Information Card
| Symbol | KRT6C |
|---|---|
| Full Name | Keratin 6C |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 286887 ncbi.nlm.nih.gov/gene/286887 |
| Ensembl ID | ENSG00000170477 |
| UniProt ID | P48668 |
| OMIM ID | 612315 |
| HGNC ID | 20407 |
| Aliases | K6C, KRT6D, cytokeratin 6C |
Description
KRT6C encodes keratin 6C, a type II cytokeratin expressed in epithelial tissues including the nail bed, hair follicle, and palmoplantar epidermis. It forms heterodimers with type I keratins to provide structural integrity. Mutations in KRT6C are associated with pachyonychia congenita and steatocystoma multiplex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pachyonychia congenita | Missense mutations disrupt keratin filament assembly, leading to nail dystrophy and palmoplantar keratoderma | ClinVar, OMIM |
| Steatocystoma multiplex | Mutations cause abnormal keratinization in sebaceous duct epithelium, resulting in multiple cysts | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.2 | Medium |
| Vagina | 6.1 | Low |
| Oral mucosa | 5.4 | Low |
| Hair follicle | 15.0 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 18.3 | High expression |
| A431 (epidermoid carcinoma) | 14.7 | High expression |
| NHEK (normal human epidermal keratinocytes) | 20.1 | High expression |
| MCF7 (breast cancer) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1406G>A (p.Arg469His) | Missense | <0.01% | Disrupts keratin filament assembly; associated with pachyonychia congenita |
| c.1249C>T (p.Arg417Cys) | Missense | <0.01% | Causes steatocystoma multiplex |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are rare; most pathogenic variants are missense with dominant-negative effects.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Most KRT6C mutations act via dominant-negative interference, disrupting keratin heterodimer formation and filament integrity.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • intermediate filament organization |
| • keratin filament binding | • epithelial cell differentiation |
| • wound healing |
Pathways
• Intermediate filament organization
• Keratinization
• Formation of the cornified envelope
Protein Summary
Keratin 6C is a 564-amino acid type II cytokeratin with a central alpha-helical rod domain flanked by non-helical head and tail regions. It heteropolymerizes with type I keratins (e.g., K16, K17) to form intermediate filaments critical for mechanical resilience in epithelial tissues. Mutations in the rod domain cause filament aggregation and cellular fragility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT6C Knockout HEK293 Cell Line | EDJ-KQ9759 | Human | 286887 | Details Get a Quote |
| KRT6C Knockout HeLa Cell Line | EDJ-KQ59565 | Human | 286887 | Details Get a Quote |
| KRT6C Knockout A-549 Cell Line | EDJ-KQ68031 | Human | 286887 | Details Get a Quote |
| KRT6C Knockout HCT 116 Cell Line | EDJ-KQ76411 | Human | 286887 | Details Get a Quote |
