KRT27: Keratin 27 Gene
Type I Hair Keratin, Basic Cationic Protein
Gene Information Card
| Symbol | KRT27 |
|---|---|
| Full Name | Keratin 27 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 342574 ncbi.nlm.nih.gov/gene/342574 |
| Ensembl ID | ENSG00000186020 |
| UniProt ID | Q7Z3Z0 |
| OMIM ID | 608246 |
| HGNC ID | 20423 |
| Aliases | K25A, KRT25A, keratin 27, type I |
Description
KRT27 (keratin 27) is a protein-coding gene located on chromosome 17q21.2. It encodes a type I hair keratin, which is a basic cationic protein expressed in the hair follicle cortex. Keratins are intermediate filament proteins that provide structural integrity to epithelial cells. KRT27 is specifically involved in hair shaft formation and is associated with autosomal dominant monilethrix when mutated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in KRT27 disrupt keratin intermediate filament assembly, leading to fragile hair with beaded appearance. | ClinVar, OMIM |
| Hair disorder (unspecified) | Variants in KRT27 may contribute to other hair shaft abnormalities. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High expression in hair cortex |
| Esophagus | 0.0 | Not detected |
| Cervix, uterine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | No expression |
| Hair follicle dermal papilla cells | 0.0 | No expression |
| Hair follicle outer root sheath cells | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.362A>G (p.Asn121Ser) | Missense | Rare | Dominant negative; causes monilethrix |
| c.364C>T (p.Arg122Cys) | Missense | Rare | Dominant negative; causes monilethrix |
| c.365G>A (p.Arg122His) | Missense | Rare | Dominant negative; causes monilethrix |
Mutation functional classification
Loss of Function (LOF)
Not reported for KRT27; loss-of-function variants are not associated with disease.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., Asn121Ser, Arg122Cys) act via dominant-negative interference with keratin filament assembly, leading to 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 (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 27 is a 50.6 kDa type I hair keratin composed of 438 amino acids. It contains a central alpha-helical rod domain flanked by non-helical head and tail domains. The protein forms heteropolymers with type II hair keratins to build intermediate filaments essential for hair shaft strength and integrity. Mutations in the helix initiation motif disrupt filament assembly, causing autosomal dominant monilethrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT27 Knockout HEK293 Cell Line | EDJ-KQ13976 | Human | 342574 | Details Get a Quote |
| KRT27 Knockout HeLa Cell Line | EDJ-KQ59728 | Human | 342574 | Details Get a Quote |
| KRT27 Knockout A-549 Cell Line | EDJ-KQ68200 | Human | 342574 | Details Get a Quote |
| KRT27 Knockout HCT 116 Cell Line | EDJ-KQ76573 | Human | 342574 | Details Get a Quote |
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