KRT79
Keratin 79: A Type II Cytoskeletal Keratin with Emerging Roles in Skin and Hair Biology
Gene Information Card
| Symbol | KRT79 |
|---|---|
| Full Name | keratin 79 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 338785 ncbi.nlm.nih.gov/gene/338785 |
| Ensembl ID | ENSG00000185619 |
| UniProt ID | Q5XKE5 |
| OMIM ID | 616487 |
| HGNC ID | 28923 |
| Aliases | KRT79, K6L, KRT6L |
Description
KRT79 (keratin 79) is a protein-coding gene located on chromosome 12q13.13. It encodes a type II cytokeratin, part of the intermediate filament family, which is primarily expressed in the inner root sheath of hair follicles and in certain epithelial tissues. Keratin 79 plays a structural role in maintaining cytoskeletal integrity and is involved in hair follicle development and differentiation. Mutations in KRT79 have been associated with hair and skin disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ectodermal dysplasia/skin fragility syndrome | Disruption of keratin filament network due to KRT79 mutations leads to compromised epithelial integrity. | OMIM #616487; ClinVar |
| Woolly hair/hypotrichosis | KRT79 variants impair hair follicle inner root sheath structure, causing abnormal hair growth. | OMIM #616487; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.3 | Low |
| Hair follicle | 45.2 | High |
| Tongue | 6.1 | Low |
| Cervix | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | Immortalized keratinocyte line |
| NHEK (normal human epidermal keratinocytes) | 22.3 | Primary keratinocytes |
| A431 (epidermoid carcinoma) | 8.5 | Squamous cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.374G>A (p.Arg125His) | missense | Rare | Disrupts helix initiation motif, impairs filament assembly |
| c.1000C>T (p.Arg334*) | nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for KRT79.
Dominant Negative (DN)
Missense mutations in the helix initiation motif (e.g., p.Arg125His) can disrupt filament assembly in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of cytoskeleton | • intermediate filament organization |
| • keratin filament | • cytoskeleton |
| • epithelial cell differentiation | • hair follicle development |
Pathways
• Intermediate filament organization
• Keratinization
• Formation of the cornified envelope
Protein Summary
Keratin 79 is a type II cytokeratin (basic/neutral) that heteropolymerizes with type I keratins to form intermediate filaments. It is specifically expressed in the inner root sheath of hair follicles and in certain stratified epithelia. The protein provides mechanical resilience to epithelial cells and is essential for proper hair shaft formation. Mutations in KRT79 can lead to hair and skin disorders due to compromised filament integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT79 Knockout HEK293 Cell Line | EDJ-KQ13980 | Human | 338785 | Details Get a Quote |
| KRT79 Knockout HeLa Cell Line | EDJ-KQ59625 | Human | 338785 | Details Get a Quote |
| KRT79 Knockout A-549 Cell Line | EDJ-KQ68090 | Human | 338785 | Details Get a Quote |
| KRT79 Knockout HCT 116 Cell Line | EDJ-KQ76465 | Human | 338785 | Details Get a Quote |
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