KRT83: Keratin 83 Gene
A type II hair keratin involved in hair shaft formation and associated with monilethrix and other hair disorders.
Gene Information Card
| Symbol | KRT83 |
|---|---|
| Full Name | keratin 83 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 3889 ncbi.nlm.nih.gov/gene/3889 |
| Ensembl ID | ENSG00000170523 |
| UniProt ID | P78385 |
| OMIM ID | 602765 |
| HGNC ID | 6448 |
| Aliases | HB6, KRTHB6, KRT2.12, K86, hHb6 |
Description
KRT83 encodes a type II hair keratin, specifically keratin 83 (K86), which is a basic protein that heterodimerizes with type I keratins to form intermediate filaments in the hair cortex. These filaments are essential for the structural integrity of hair shafts. Mutations in KRT83 are associated with monilethrix, a genetic 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 keratin filament assembly, leading to fragile, beaded hair shafts. | OMIM #158000; ClinVar; multiple case reports |
| Woolly hair (isolated) | Rare variants may alter hair shaft structure, though evidence is limited. | ClinVar; limited case studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | High | nTPM 100+ (GTEx) |
| Skin | Moderate | nTPM 20-50 (GTEx) |
| Esophagus | Low | nTPM <10 (GTEx) |
| Tongue | Low | nTPM <10 (GTEx) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Low | nTPM <5; not primary hair keratinocyte |
| NHEK (normal human epidermal keratinocytes) | Low | nTPM <5; hair-specific expression |
| Dermal papilla cells | Not detected | nTPM 0; not expressed in dermal papilla |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.367C>T (p.Arg123Cys) | Missense | Reported in monilethrix families | Disrupts helix initiation motif, dominant-negative effect |
| c.368G>A (p.Arg123His) | Missense | Reported in monilethrix families | Similar dominant-negative effect |
| c.370A>G (p.Asn124Asp) | Missense | Rare | Alters filament assembly |
Mutation functional classification
Loss of Function (LOF)
Not typically observed; complete loss may be lethal or compensated by other keratins.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Most monilethrix-associated mutations act via dominant-negative interference with keratin filament formation.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • epithelial cell differentiation (GO:0030855) | • keratin filament (GO:0045095) |
| • membrane (GO:0016020) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
• Hair follicle development (KEGG: hsa04540)
Protein Summary
Keratin 83 (K86) is a 58 kDa type II hair keratin that forms heterodimers with type I hair keratins (e.g., K31, K35) to build intermediate filaments in the hair cortex. It contains a central alpha-helical rod domain with helix initiation and termination motifs critical for filament assembly. Mutations in these motifs cause monilethrix. The protein is expressed predominantly in the hair follicle cortex and is essential for hair shaft strength and integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT83 Knockout HEK293 Cell Line | EDJ-KQ5099 | Human | 3889 | Details Get a Quote |
| KRT83 Knockout A-549 Cell Line | EDJ-KQ28048 | Human | 3889 | Details Get a Quote |
| KRT83 Knockout HeLa Cell Line | EDJ-KQ53768 | Human | 3889 | Details Get a Quote |
| KRT83 Knockout HCT 116 Cell Line | EDJ-KQ70731 | Human | 3889 | Details Get a Quote |
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