KRT38 (Keratin 38)
Type I Hair Keratin Gene
Gene Information Card
| Symbol | KRT38 |
|---|---|
| Full Name | Keratin 38 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 8687 ncbi.nlm.nih.gov/gene/8687 |
| Ensembl ID | ENSG00000171365 |
| UniProt ID | O76015 |
| OMIM ID | 604540 |
| HGNC ID | 6445 |
| Aliases | HA6, KRT38, hHa6, keratin 38, type I hair keratin 6 |
Description
KRT38 encodes a type I hair keratin, specifically keratin 38 (also known as hair keratin 6, hHa6). This protein is a member of the intermediate filament family and is expressed in the hair cortex, contributing to the structural integrity of hair shafts. Type I keratins are acidic and form heteropolymers with type II keratins to build hair fibers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Mutations in hair keratins including KRT38 may contribute to hair shaft fragility; however, direct evidence for KRT38 in monilethrix is limited. | No direct association in ClinVar or OMIM as of 2025. |
| Hair disorders (general) | As a structural hair keratin, KRT38 variants could theoretically affect hair strength and morphology. | No specific disease association reported in NCBI or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | Not available in GTEx | High (based on UniProt tissue specificity) |
| Skin | Not available in GTEx | Low (not typically expressed in interfollicular epidermis) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Not expected to express hair keratins |
| Primary hair follicle keratinocytes | Not available | Expected high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in KRT38.
Gain of Function (GOF)
No documented gain-of-function variants in KRT38.
Dominant Negative (DN)
No documented dominant-negative variants in KRT38.
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) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 38 is a type I hair keratin (acidic) of approximately 50 kDa, composed of 447 amino acids. It contains a central alpha-helical rod domain flanked by non-helical head and tail domains. It heteropolymerizes with type II hair keratins (e.g., KRT81, KRT83) to form intermediate filaments in the hair cortex, providing mechanical strength to hair shafts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT38 Knockout HEK293 Cell Line | EDJ-KQ6323 | Human | 8687 | Details Get a Quote |
| KRT38 Knockout HeLa Cell Line | EDJ-KQ54979 | Human | 8687 | Details Get a Quote |
| KRT38 Knockout A-549 Cell Line | EDJ-KQ63461 | Human | 8687 | Details Get a Quote |
| KRT38 Knockout HCT 116 Cell Line | EDJ-KQ71929 | Human | 8687 | Details Get a Quote |
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