KRT75: Keratin 75 Gene in Hair and Nail Disorders
Comprehensive genomic and clinical overview of KRT75, a type II keratin gene associated with pseudofolliculitis barbae and ectodermal dysplasias.
Gene Information Card
| Symbol | KRT75 |
|---|---|
| Full Name | Keratin 75 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000170454 |
| UniProt ID | O95678 |
| OMIM ID | 609025 |
| HGNC ID | 6429 |
| Aliases | K6HF, KRT6HF, CK-6HF, keratin 6 hair follicle |
Description
KRT75 encodes keratin 75, a type II (basic) keratin expressed in the hair follicle and nail bed. It forms heterodimers with type I keratins to provide structural integrity to epithelial cells. Mutations in KRT75 are associated with pseudofolliculitis barbae (PFB) and certain forms of ectodermal dysplasia. The gene is part of the keratin gene cluster on chromosome 12q13.13.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pseudofolliculitis barbae | Missense mutations (e.g., p.Glu337Lys) alter keratin filament assembly, leading to hair shaft curvature and ingrown hairs. | ClinVar, OMIM |
| Ectodermal dysplasia, hair/nail type | Disruption of keratin network in hair and nail epithelia causes fragility and abnormal development. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.2 | Low |
| Hair follicle | 45.0 | High |
| Nail bed | 38.0 | High |
| Oral mucosa | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.3 | Immortalized keratinocyte line |
| NHEK (normal human epidermal keratinocytes) | 22.0 | Primary keratinocytes |
| A431 (epidermoid carcinoma) | 9.8 | Squamous cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1009G>A (p.Glu337Lys) | Missense | Common in PFB | Alters keratin filament assembly, dominant negative effect |
| c.1426C>T (p.Arg476Cys) | Missense | Rare | Disrupts heterodimer formation |
| c.1649G>A (p.Arg550His) | Missense | Reported in ectodermal dysplasia | Impairs intermediate filament stability |
Mutation functional classification
Loss of Function (LOF)
No clear loss-of-function mutations reported; most are missense with dominant negative effects.
Gain of Function (GOF)
Not described for KRT75.
Dominant Negative (DN)
p.Glu337Lys and other missense mutations act via dominant negative interference with keratin filament assembly.
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
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
• Intermediate filament organization (Reactome: R-HSA-5250924)
Protein Summary
Keratin 75 is a 55.8 kDa type II keratin protein (UniProt O95678) composed of a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type I keratins (e.g., KRT31, KRT33) to form intermediate filaments in hair follicle companion layer and nail matrix. The protein is essential for mechanical resilience of hair and nail epithelia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT75 Knockout HEK293 Cell Line | EDJ-KQ6464 | Human | 9119 | Details Get a Quote |
| KRT75 Knockout HeLa Cell Line | EDJ-KQ55088 | Human | 9119 | Details Get a Quote |
| KRT75 Knockout A-549 Cell Line | EDJ-KQ63567 | Human | 9119 | Details Get a Quote |
| KRT75 Knockout HCT 116 Cell Line | EDJ-KQ72035 | Human | 9119 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
