KRT71: Keratin 71 Gene
A type II keratin critical for hair shaft integrity and implicated in hair disorders
Gene Information Card
| Symbol | KRT71 |
|---|---|
| Full Name | Keratin 71 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 100132224 ncbi.nlm.nih.gov/gene/100132224 |
| Ensembl ID | ENSG00000205562 |
| UniProt ID | Q86Y46 |
| OMIM ID | 608245 |
| HGNC ID | 28927 |
| Aliases | KRT2-10, KRT71, KRT2-10, KRT2.10, KRT2-10, hK2.10, KRT2-10, KRT2.10, KRT2-10, KRT2.10 |
Description
KRT71 (keratin 71) is a protein-coding gene that belongs to the type II keratin family. Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. KRT71 is specifically expressed in the hair follicle, particularly in the inner root sheath and hair shaft, where it plays a critical role in hair formation and strength. Mutations in KRT71 are associated with autosomal dominant monilethrix, a hair disorder characterized by beaded, fragile hair that breaks easily.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix (autosomal dominant) | Missense mutations in the helix initiation motif of KRT71 disrupt intermediate filament assembly, leading to fragile, beaded hair shafts. | ClinVar, OMIM |
| Woolly hair (hypotrichosis) | KRT71 mutations impair hair shaft keratinization, resulting in tightly curled, sparse hair. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin (scalp) | 12.5 | Medium |
| Hair follicle | 15.2 | High |
| Esophagus | 1.2 | Low |
| Cervix | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 8.3 | Moderate expression |
| NHEK (normal human epidermal keratinocytes) | 6.1 | Moderate expression |
| HEK293 | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428T>C (p.Leu143Pro) | Missense | Reported in monilethrix families | Disrupts helix initiation motif, dominant negative effect |
| c.416T>C (p.Ile139Thr) | Missense | Rare | Alters keratin filament assembly |
| c.437G>A (p.Gly146Asp) | Missense | Reported in woolly hair | Impairs hair shaft structure |
Mutation functional classification
Loss of Function (LOF)
Not typically observed; KRT71 mutations are usually dominant negative.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Most KRT71 mutations act via dominant negative interference with keratin filament polymerization, causing hair shaft fragility.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809370)
Protein Summary
Keratin 71 (KRT71) is a 55.5 kDa type II keratin protein composed of 509 amino acids. It forms heterodimers with type I keratins (e.g., KRT31, KRT33) to build intermediate filaments in the hair follicle inner root sheath and hair shaft. The protein contains a central alpha-helical rod domain with conserved helix initiation and termination motifs essential for filament assembly. Mutations in these motifs cause structural defects leading to hair disorders such as monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT71 Knockout HEK293 Cell Line | EDJ-KQ7396 | Human | 112802 | Details Get a Quote |
| KRT71 Knockout HeLa Cell Line | EDJ-KQ57898 | Human | 112802 | Details Get a Quote |
| KRT71 Knockout A-549 Cell Line | EDJ-KQ66392 | Human | 112802 | Details Get a Quote |
| KRT71 Knockout HCT 116 Cell Line | EDJ-KQ74818 | Human | 112802 | Details Get a Quote |
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