KRT72: Keratin 72
A type II keratin expressed in the inner root sheath of hair follicles, associated with hair disorders.
Gene Information Card
| Symbol | KRT72 |
|---|---|
| Full Name | keratin 72 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 140807 ncbi.nlm.nih.gov/gene/140807 |
| Ensembl ID | ENSG00000170486 |
| UniProt ID | Q14CN4 |
| OMIM ID | 608245 |
| HGNC ID | 28927 |
| Aliases | KRT72, K6IRS2, KRT6IRS2, keratin 6 inner root sheath 2 |
Description
KRT72 encodes a type II keratin (keratin 72) specifically expressed in the inner root sheath of hair follicles. It forms heterodimers with type I keratins to provide structural integrity to hair. Mutations in KRT72 are associated with autosomal dominant monilethrix, a hair shaft disorder characterized by beaded hair and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in the helix initiation motif disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | ClinVar, OMIM |
| Hair fragility | Structural defects in keratin 72 impair mechanical strength of hair fibers. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle (inner root sheath) | Not available (nTPM) | High |
| Skin | Not available (nTPM) | Low |
| Esophagus | Not available (nTPM) | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Low expression |
| NHEK (normal human epidermal keratinocytes) | Not available | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.332T>C (p.Leu111Pro) | Missense | Rare | Disrupts helix initiation motif; associated with monilethrix |
| c.334G>A (p.Glu112Lys) | Missense | Rare | Alters filament assembly; reported in monilethrix families |
Mutation functional classification
Loss of Function (LOF)
Not established; missense mutations likely cause dominant-negative effects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Mutations in the helix initiation motif interfere with normal keratin filament formation, consistent with dominant-negative mechanism.
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) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 72 is a 55 kDa type II keratin (basic) that heteropolymerizes with type I keratins (e.g., KRT71, KRT73) to form intermediate filaments in the inner root sheath of hair follicles. It contains a central alpha-helical rod domain with conserved helix initiation and termination motifs critical for filament assembly. Mutations in these motifs cause monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT72 Knockout HEK293 Cell Line | EDJ-KQ9814 | Human | 140807 | Details Get a Quote |
| KRT72 Knockout HeLa Cell Line | EDJ-KQ58459 | Human | 140807 | Details Get a Quote |
| KRT72 Knockout A-549 Cell Line | EDJ-KQ66945 | Human | 140807 | Details Get a Quote |
| KRT72 Knockout HCT 116 Cell Line | EDJ-KQ75347 | Human | 140807 | Details Get a Quote |
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