KRT25
Keratin 25
Gene Information Card
| Symbol | KRT25 |
|---|---|
| Full Name | Keratin 25 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 147183 ncbi.nlm.nih.gov/gene/147183 |
| Ensembl ID | ENSG00000167768 |
| UniProt ID | Q7Z3Z0 |
| OMIM ID | 616027 |
| HGNC ID | 28926 |
| Aliases | K25, KRT25A, KRT25B, hK25 |
Description
KRT25 encodes keratin 25, a type I (acidic) hair keratin expressed in the hair shaft and inner root sheath. It is a member of the intermediate filament family and is essential for hair fiber structure and integrity. Mutations in KRT25 are associated with autosomal dominant monilethrix, a hair disorder characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in the helix initiation motif disrupt intermediate filament assembly, leading to hair shaft fragility and beaded appearance. | OMIM #616027; ClinVar; PMID: 22841690 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | Specific expression in hair shaft and inner root sheath |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | Low | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332A>G (p.Asn111Ser) | Missense | Rare | Disrupts keratin filament assembly; associated with monilethrix |
| c.334T>C (p.Phe112Leu) | Missense | Rare | Similar effect; reported in monilethrix families |
Mutation functional classification
Loss of Function (LOF)
Not established; most mutations are missense with dominant-negative effect.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Yes; missense mutations in the helix initiation motif interfere with filament formation, causing dominant-negative disruption.
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 25 is a 55 kDa type I hair keratin that heteropolymerizes with type II keratins to form intermediate filaments in the hair cortex and inner root sheath. It provides mechanical resilience to the hair shaft. Mutations in the conserved helix initiation motif cause dominant-negative filament disruption, leading to monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT25 Knockout HEK293 Cell Line | EDJ-KQ10563 | Human | 147183 | Details Get a Quote |
| KRT25 Knockout HeLa Cell Line | EDJ-KQ58568 | Human | 147183 | Details Get a Quote |
| KRT25 Knockout A-549 Cell Line | EDJ-KQ67058 | Human | 147183 | Details Get a Quote |
| KRT25 Knockout HCT 116 Cell Line | EDJ-KQ75458 | Human | 147183 | Details Get a Quote |
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