KRTAP2-3: Keratin Associated Protein 2-3
Structural component of hair shaft; member of the high-sulfur keratin-associated protein family
Gene Information Card
| Symbol | KRTAP2-3 |
|---|---|
| Full Name | Keratin Associated Protein 2-3 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 337966 ncbi.nlm.nih.gov/gene/337966 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 616888 |
| HGNC ID | 18926 |
| Aliases | KAP2.3, KRTAP2.3 |
Description
KRTAP2-3 (Keratin Associated Protein 2-3) is a protein-coding gene located on chromosome 17q21.2. It belongs to the high-sulfur keratin-associated protein (KAP) family, which are essential components of the hair shaft. These proteins crosslink with keratin intermediate filaments to provide strength, rigidity, and structural integrity to hair. KRTAP2-3 is specifically expressed in the hair follicle cortex and contributes to the formation of the hair fiber.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Altered crosslinking of keratin-associated proteins may disrupt hair shaft structure | OMIM #616888 |
| Monilethrix | Mutations in KRTAP genes can cause beaded hair shaft fragility | OMIM #158000 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | Specific expression in hair cortex |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | No expression |
| Primary hair follicle keratinocytes | High | Cell type-specific expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Unknown | Predicted to affect protein start codon |
| c.100C>T | Nonsense | Unknown | Premature stop codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; likely disrupt hair shaft integrity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of hair cuticle | • keratinization |
| • hair follicle development | • intermediate filament organization |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
KRTAP2-3 is a high-sulfur keratin-associated protein (KAP) of approximately 10-15 kDa. It contains a high proportion of cysteine residues, which form disulfide bonds with keratin intermediate filaments, contributing to the mechanical strength and rigidity of the hair shaft. The protein is synthesized in the hair follicle cortex and incorporated into the hair fiber during keratinization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP2-3 Knockout HEK293 Cell Line | EDJ-KQ13246 | Human | 730755 | Details Get a Quote |
| KRTAP2-3 Knockout HCT 116 Cell Line | EDJ-KQ43916 | Human | 730755 | Details Get a Quote |
| KRTAP2-3 Knockout HeLa Cell Line | EDJ-KQ60777 | Human | 730755 | Details Get a Quote |
| KRTAP2-3 Knockout A-549 Cell Line | EDJ-KQ69246 | Human | 730755 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
