KRT28: Keratin 28 Gene
Type I Cytoskeletal Keratin Involved in Epithelial Integrity
Gene Information Card
| Symbol | KRT28 |
|---|---|
| Full Name | Keratin 28 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 162605 ncbi.nlm.nih.gov/gene/162605 |
| Ensembl ID | ENSG00000175063 |
| UniProt ID | Q7Z3Y8 |
| OMIM ID | 616645 |
| HGNC ID | 28930 |
| Aliases | KRT25A, KRT28, CK-28 |
Description
KRT28 encodes keratin 28, a type I intermediate filament protein expressed in the inner root sheath of hair follicles. It forms heteropolymers with type II keratins to maintain structural integrity of epithelial cells. Mutations in KRT28 are associated with autosomal dominant woolly hair and skin fragility disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair, autosomal dominant 2 (ADWH2) | Missense mutations disrupt keratin filament assembly, leading to hair shaft fragility | OMIM #616645 |
| Epidermolysis bullosa simplex with woolly hair | Loss of keratin network integrity in basal keratinocytes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Hair follicle | 18.3 | High |
| Esophagus | 4.2 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.0 | High expression |
| NHEK (normal human epidermal keratinocytes) | 14.2 | High expression |
| MCF7 (breast cancer) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.334G>A (p.Gly112Arg) | Missense | Rare | Disrupts filament assembly |
| c.413T>C (p.Leu138Pro) | Missense | Rare | Causes woolly hair phenotype |
| 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) lead to absent or truncated protein.
Gain of Function (GOF)
Not reported for KRT28.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly112Arg) interfere with wild-type keratin filament formation.
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) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 28 is a 48 kDa type I intermediate filament protein with a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type II keratins (e.g., KRT71) to form 10 nm filaments essential for mechanical resilience of hair and skin epithelium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT28 Knockout HEK293 Cell Line | EDJ-KQ2228 | Human | 162605 | Details Get a Quote |
| KRT28 Knockout HeLa Cell Line | EDJ-KQ58843 | Human | 162605 | Details Get a Quote |
| KRT28 Knockout A-549 Cell Line | EDJ-KQ67331 | Human | 162605 | Details Get a Quote |
| KRT28 Knockout HCT 116 Cell Line | EDJ-KQ75726 | Human | 162605 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
