KRT26
Keratin 26: A Type I Cytoskeletal Keratin with Emerging Roles in Epithelial Biology
Gene Information Card
| Symbol | KRT26 |
|---|---|
| Full Name | keratin 26 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3887 ncbi.nlm.nih.gov/gene/3887 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q7Z3Y8 |
| OMIM ID | 616876 |
| HGNC ID | 6442 |
| Aliases | K26, KRT26A, KRT26B, hK26 |
Description
KRT26 encodes keratin 26, a type I (acidic) cytokeratin that forms intermediate filaments in epithelial cells. It is part of the keratin gene cluster on chromosome 17q21.2 and is expressed in specific epithelial tissues, including hair follicles and the nail bed. Keratin 26 heteropolymerizes with type II keratins to provide structural integrity. Mutations in KRT26 are associated with hair and nail disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Mutations in KRT26 disrupt keratin filament assembly in hair shaft, leading to beaded hair and fragility. | ClinVar, OMIM |
| Nail disorder, non-syndromic | Variants in KRT26 cause nail dystrophy due to impaired keratin network in nail bed epithelium. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Hair follicle | 12.5 | High |
| Nail bed | 9.3 | High |
| Esophagus | 1.2 | Low |
| Tongue | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 2.1 | Moderate expression |
| NHEK (normal human epidermal keratinocytes) | 1.8 | Low expression |
| A431 (epidermoid carcinoma) | 0.3 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.404G>A (p.Arg135His) | Missense | Rare | Disrupts filament assembly; associated with monilethrix |
| c.497T>C (p.Leu166Pro) | Missense | Rare | Causes nail dystrophy |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) abolish protein production, leading to haploinsufficiency.
Gain of Function (GOF)
No documented gain-of-function mutations in KRT26.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Arg135His) act in a dominant-negative manner, disrupting filament elongation.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 26 is a 463-amino-acid type I keratin with a central alpha-helical rod domain flanked by non-helical head and tail domains. It forms heterodimers with type II keratins (e.g., KRT81, KRT85) to build intermediate filaments in hair and nail epithelia. The protein is essential for mechanical resilience; mutations cause structural defects leading to hair fragility and nail abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT26 Knockout HEK293 Cell Line | EDJ-KQ2427 | Human | 353288 | Details Get a Quote |
| KRT26 Knockout HeLa Cell Line | EDJ-KQ59870 | Human | 353288 | Details Get a Quote |
| KRT26 Knockout A-549 Cell Line | EDJ-KQ68334 | Human | 353288 | Details Get a Quote |
| KRT26 Knockout HCT 116 Cell Line | EDJ-KQ76709 | Human | 353288 | Details Get a Quote |
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