KRTAP4-8: Keratin Associated Protein 4-8
Structural component of hair shaft, member of the high-sulfur keratin-associated protein family
Gene Information Card
| Symbol | KRTAP4-8 |
|---|---|
| Full Name | Keratin Associated Protein 4-8 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 8526 ncbi.nlm.nih.gov/gene/8526 |
| Ensembl ID | ENSG00000205755 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 608252 |
| HGNC ID | 18914 |
| Aliases | KAP4.8, KRTAP4.8 |
Description
KRTAP4-8 (Keratin Associated Protein 4-8) is a protein-coding gene located on chromosome 17q21.2. It belongs to the high-sulfur keratin-associated protein (KAP) family, which are structural components of the hair shaft. These proteins form a matrix that cross-links with keratin intermediate filaments, contributing to the rigidity and strength of hair. KRTAP4-8 is specifically expressed in the hair follicle and is involved in hair fiber formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Mutations in KRTAP genes can disrupt hair shaft structure, leading to abnormal hair texture | PMID: 23468645 |
| Monilethrix | Altered keratin-associated protein expression may contribute to hair fragility | PMID: 16965326 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High |
| Scalp | High | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| NHEK (normal human epidermal keratinocytes) | 0.0 | Not expressed |
| Hair follicle dermal papilla cells | High | Expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown |
| c.2T>C | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in KRTAP4-8.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • keratin filament (GO:0045095) |
| • epithelial cell differentiation (GO:0030855) |
Pathways
• Keratinization (Reactome: R-HSA-6805567)
• Formation of the cornified envelope (Reactome: R-HSA-6809371)
Protein Summary
The KRTAP4-8 protein is a high-sulfur keratin-associated protein (KAP) that is a major component of the hair shaft matrix. It contains a high proportion of cysteine residues, which form disulfide bonds with keratin intermediate filaments, providing mechanical strength and rigidity to hair. The protein is approximately 20 kDa in size and is predominantly expressed in the hair follicle cortex.
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|---|---|---|---|---|
| No Data | ||||
