KRT73: Keratin 73
A type II hair keratin gene involved in hair shaft formation and associated with monilethrix and other hair disorders.
Gene Information Card
| Symbol | KRT73 |
|---|---|
| Full Name | keratin 73 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 100507600 ncbi.nlm.nih.gov/gene/100507600 |
| Ensembl ID | ENSG00000205642 |
| UniProt ID | Q86Y46 |
| OMIM ID | 616920 |
| HGNC ID | 28929 |
| Aliases | KRT2B, KRT73, KRT2-2, hHb6 |
Description
KRT73 (keratin 73) is a protein-coding gene that encodes a type II hair keratin. Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. KRT73 is specifically expressed in the hair shaft and is involved in hair formation. Mutations in this gene have been associated with monilethrix, a rare autosomal dominant hair disorder characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in KRT73 disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High expression in hair shaft |
| Scalp | High | High expression in hair cortex |
| Esophagus | 0.0 | Not detected |
| Cervix | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| NHEK (normal human epidermal keratinocytes) | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | 0.0 | Not expressed |
| Hair shaft keratinocytes | High | Expressed in hair cortex |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.866G>A (p.Gly289Asp) | Missense | Unknown | Dominant negative effect on keratin filament formation |
| c.866G>T (p.Gly289Val) | Missense | Unknown | Dominant negative effect on keratin filament formation |
| c.868G>A (p.Glu290Lys) | Missense | Unknown | Dominant negative effect on keratin filament formation |
Mutation functional classification
Loss of Function (LOF)
Not reported for KRT73; dominant mutations are typically gain-of-function or dominant negative.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Gly289Asp, p.Gly289Val, p.Glu290Lys) act via dominant negative interference with keratin filament assembly, causing 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 73 is a type II hair keratin (basic/neutral) that heteropolymerizes with type I hair keratins to form intermediate filaments in the hair shaft cortex. It is essential for hair shaft strength and integrity. Mutations in the helix initiation motif cause dominant negative disruption of filament assembly, leading to monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT73 Knockout HEK293 Cell Line | EDJ-KQ9163 | Human | 319101 | Details Get a Quote |
| KRT73 Knockout HeLa Cell Line | EDJ-KQ59575 | Human | 319101 | Details Get a Quote |
| KRT73 Knockout A-549 Cell Line | EDJ-KQ68040 | Human | 319101 | Details Get a Quote |
| KRT73 Knockout HCT 116 Cell Line | EDJ-KQ76420 | Human | 319101 | Details Get a Quote |
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