KRT6A
Keratin 6A: A structural protein gene associated with skin disorders and cancer
Gene Information Card
| Symbol | KRT6A |
|---|---|
| Full Name | Keratin 6A |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3853 ncbi.nlm.nih.gov/gene/3853 |
| Ensembl ID | ENSG00000135480 |
| UniProt ID | P02538 |
| OMIM ID | 148041 |
| HGNC ID | 6443 |
| Aliases | CK6A, K6A, KRT6B, KRT6C |
Description
KRT6A encodes keratin 6A, a type II cytokeratin expressed in epithelial tissues, particularly in the nail bed, oral mucosa, and palmoplantar epidermis. It forms heteropolymers with type I keratins (e.g., K16, K17) to maintain structural integrity. Mutations in KRT6A are associated with pachyonychia congenita type 1 (PC-1) and focal palmoplantar keratoderma. The gene is also upregulated in wound healing and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pachyonychia congenita 1 (PC-1) | Missense mutations in the helix initiation/termination motifs disrupt keratin filament assembly, leading to fragility of nail, skin, and oral epithelium. | OMIM #167200; ClinVar |
| Focal palmoplantar keratoderma | Similar dominant-negative mutations cause hyperkeratosis and blistering on palms and soles. | OMIM #148041; HGNC |
| Oral leukoplakia | Overexpression of KRT6A in oral epithelium is associated with hyperproliferative lesions. | NCBI Gene; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Oral mucosa | 18.3 | High |
| Esophagus | 9.8 | Medium |
| Nail bed | 22.1 | High |
| Lung | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.4 | High expression |
| A431 (epidermoid carcinoma) | 20.1 | High expression |
| MCF7 (breast cancer) | 0.8 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1649G>A (p.Arg550His) | Missense | <0.01% | Dominant-negative; disrupts keratin filament assembly in PC-1 |
| c.1648C>T (p.Arg550Cys) | Missense | <0.01% | Dominant-negative; associated with PC-1 |
| c.1406G>A (p.Gly469Asp) | Missense | <0.01% | Dominant-negative; causes focal palmoplantar keratoderma |
Mutation functional classification
Loss of Function (LOF)
Not typical; KRT6A mutations are dominant-negative rather than loss-of-function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Most pathogenic mutations in the helix boundary motifs act as dominant-negative, disrupting intermediate filament network.
View complete mutation data：
Gene Ontology (GO)
| • intermediate filament cytoskeleton | • structural molecule activity |
| • keratin filament | • epidermis development |
| • cell-cell junction |
Pathways
• Intermediate filament organization
• Keratinization
• Wound healing
Protein Summary
Keratin 6A is a 564-amino acid type II keratin with a central alpha-helical rod domain flanked by non-helical head and tail domains. It forms heterodimers with type I keratins (K16, K17) to build intermediate filaments essential for mechanical resilience of epithelial cells. The protein is induced in hyperproliferative states such as wound healing and psoriasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT6A Knockout HEK293 Cell Line | EDJ-KQ50409 | Human | 3853 | Details Get a Quote |
| KRT6A Knockout HeLa Cell Line | EDJ-KQ53756 | Human | 3853 | Details Get a Quote |
| KRT6A Knockout A-549 Cell Line | EDJ-KQ62232 | Human | 3853 | Details Get a Quote |
| KRT6A Knockout HCT 116 Cell Line | EDJ-KQ70717 | Human | 3853 | Details Get a Quote |
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