KRT37 Gene (Keratin 37): Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the KRT37 gene, including genomic data, expression patterns, mutations, and associated diseases.
Gene Information Card
| Symbol | KRT37 |
|---|---|
| Full Name | Keratin 37 |
| Gene Type | protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 8688 ncbi.nlm.nih.gov/gene/8688 |
| Ensembl ID | ENSG00000108405 |
| UniProt ID | O76014 |
| OMIM ID | 616876 |
| HGNC ID | 6441 |
| Aliases | CK-37, K37, keratin 37, type I cytoskeletal 37 |
Description
KRT37 encodes keratin 37, a type I intermediate filament protein primarily expressed in the hair follicle and nail bed. Keratins are structural proteins that provide mechanical support and integrity to epithelial cells. KRT37 is specifically involved in the formation of hard keratin structures, such as hair and nails. Mutations in KRT37 have been associated with hair and nail disorders, and its expression is altered in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Pathogenic variants in KRT37 disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | ClinVar: Pathogenic variants reported in families with monilethrix; OMIM: 616876. |
| Nail disorder, non-syndromic | KRT37 mutations may cause nail dystrophy due to abnormal keratinization in the nail bed. | ClinVar: Variants associated with nail abnormalities; limited case reports. |
| Cancer (various) | Altered KRT37 expression in tumors may affect epithelial-mesenchymal transition and metastasis. | COSMIC: Somatic mutations and expression changes observed in multiple cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | Not available | High (specific to hair cortex) |
| Nail bed | Not available | High |
| Skin | Not available | Low (basal layer) |
| Esophagus | Not available | Low |
| Tongue | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Keratinocyte cell line; KRT37 expression may be induced under differentiation conditions. |
| A431 (epidermoid carcinoma) | Not available | Epithelial cancer cell line; KRT37 expression variable. |
| MCF7 (breast cancer) | Not available | Low expression; not a typical keratin-expressing line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374A>G (p.Asn125Ser) | Missense | Rare | Disrupts keratin filament assembly; associated with monilethrix. |
| c.560C>T (p.Thr187Met) | Missense | Rare | Potential pathogenic variant; reported in nail dystrophy. |
| c.1A>G (p.Met1Val) | Start codon loss | Very rare | Loss of protein expression; likely pathogenic. |
| c.1234G>A (p.Glu412Lys) | Missense | Somatic (cancer) | Observed in COSMIC; functional impact unknown. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) lead to haploinsufficiency or absence of functional keratin 37, compromising hair and nail structural integrity.
Gain of Function (GOF)
No clear gain-of-function mutations reported; most pathogenic variants are missense with dominant-negative effects.
Dominant Negative (DN)
Missense mutations in the rod domain (e.g., p.Asn125Ser) act in a dominant-negative manner, disrupting keratin filament network and causing structural defects.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton | • intermediate filament |
| • keratin filament | • structural molecule activity |
| • cytoskeleton organization |
Pathways
• Keratinization
• Intermediate filament organization
• Formation of the cornified envelope
Protein Summary
Keratin 37 is a type I acidic keratin (40 kDa) that forms heterodimers with type II keratins, such as KRT81, to build intermediate filaments in hair and nails. It is characterized by a central alpha-helical rod domain flanked by non-helical head and tail regions. The protein is essential for the mechanical resilience of hard epithelial structures. Mutations in KRT37 can cause hair and nail disorders, and its dysregulation has been observed in epithelial cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT37 Knockout HEK293 Cell Line | EDJ-KQ6324 | Human | 8688 | Details Get a Quote |
| KRT37 Knockout HeLa Cell Line | EDJ-KQ54980 | Human | 8688 | Details Get a Quote |
| KRT37 Knockout A-549 Cell Line | EDJ-KQ63462 | Human | 8688 | Details Get a Quote |
| KRT37 Knockout HCT 116 Cell Line | EDJ-KQ71930 | Human | 8688 | Details Get a Quote |
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