KRT34: Keratin 34
A type I hair keratin involved in hair shaft formation and associated with hair disorders.
Gene Information Card
| Symbol | KRT34 |
|---|---|
| Full Name | keratin 34 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3885 ncbi.nlm.nih.gov/gene/3885 |
| Ensembl ID | ENSG00000108423 |
| UniProt ID | Q9NSB4 |
| OMIM ID | 602760 |
| HGNC ID | 6446 |
| Aliases | HA4, HKA4, KRT34, KRTHA4, hHa4 |
Description
KRT34 (keratin 34) is a protein-coding gene that encodes a type I hair keratin. This keratin is a member of the intermediate filament family and is specifically expressed in the hair shaft, contributing to the structural integrity and strength of hair. Mutations in KRT34 are associated with hair disorders, particularly monilethrix, a condition characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in KRT34 disrupt keratin intermediate filament assembly, leading to hair shaft fragility and beaded appearance. | ClinVar, OMIM |
| Woolly hair (isolated) | Rare variants in KRT34 may contribute to abnormal hair texture and curling. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | nTPM not available (tissue-specific) | High |
| Skin | nTPM not available | Low |
| Scalp | nTPM not available | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | nTPM not available | Low expression |
| Primary hair follicle keratinocytes | nTPM not available | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.367G>A (p.Glu123Lys) | Missense | Rare | Disrupts keratin filament formation, associated with monilethrix |
| c.416T>C (p.Ile139Thr) | Missense | Rare | Causes hair shaft fragility, reported in monilethrix |
Mutation functional classification
Loss of Function (LOF)
Missense mutations impair keratin filament assembly, reducing structural integrity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutant keratin 34 interferes with wild-type keratin filament formation, leading to dominant inheritance in monilethrix.
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
• Keratinization
Protein Summary
Keratin 34 is a type I hair keratin (basic/neutral) that heteropolymerizes with type II hair keratins (e.g., KRT85) to form intermediate filaments in the hair shaft. It is essential for hair strength and elasticity. The protein contains a central alpha-helical rod domain flanked by non-helical head and tail domains, which mediate filament assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT34 Knockout HEK293 Cell Line | EDJ-KQ50414 | Human | 3885 | Details Get a Quote |
| KRT34 Knockout HeLa Cell Line | EDJ-KQ53765 | Human | 3885 | Details Get a Quote |
| KRT34 Knockout A-549 Cell Line | EDJ-KQ62244 | Human | 3885 | Details Get a Quote |
| KRT34 Knockout HCT 116 Cell Line | EDJ-KQ70728 | Human | 3885 | Details Get a Quote |
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