KRTAP12-4 Gene: Keratin Associated Protein 12-4
Genetic, structural, and clinical insights into KRTAP12-4, a keratin-associated protein involved in hair shaft integrity.
Gene Information Card
| Symbol | KRTAP12-4 |
|---|---|
| Full Name | Keratin Associated Protein 12-4 |
| Gene Type | protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 386678 ncbi.nlm.nih.gov/gene/386678 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | Q5T754 |
| OMIM ID | 616249 |
| HGNC ID | 23038 |
| Aliases | KAP12.4, KRTAP12.4 |
Description
KRTAP12-4 (Keratin Associated Protein 12-4) is a protein-coding gene located on chromosome 21q22.11. It encodes a member of the high-sulfur keratin-associated protein family, which are structural components of hair and nail. These proteins cross-link with keratin intermediate filaments to provide mechanical strength and rigidity to hair shafts. KRTAP12-4 is specifically expressed in the hair cortex and is involved in hair fiber formation. Mutations or altered expression may contribute to hair shaft disorders, though specific disease associations are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structure; variants may disrupt keratin cross-linking, leading to abnormal hair texture. | Limited evidence; no direct ClinVar entry, but related KRTAP genes implicated in hair disorders. |
| Monilethrix | Hypothesized role due to structural similarity with other keratin-associated proteins; not confirmed. | No direct evidence; speculative based on gene family function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Not detected in GTEx (low expression) |
| Hair follicle | Not available | High expression expected based on gene family, but not quantified in standard datasets. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | No data; KRTAP genes are typically not expressed in cultured keratinocytes. |
| NHEK (normal human epidermal keratinocytes) | Not available | No data; expression is hair-specific. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs144231775 | SNV (missense) | 0.00002 (global) | Potential impact on protein structure; clinical significance unknown. |
| rs148211042 | SNV (missense) | 0.00001 (global) | No known disease association. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity | • keratin filament binding |
| • hair follicle development | • intermediate filament organization |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP12-4 protein is a small, cysteine-rich protein (approximately 10 kDa) that belongs to the high-sulfur keratin-associated protein family. It contains multiple cysteine residues that form disulfide bonds with keratin intermediate filaments, contributing to the mechanical strength and rigidity of hair. The protein is localized in the hair cortex and is essential for proper hair shaft formation. Its expression is tightly regulated during hair follicle differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP12-4 Knockout HEK293 Cell Line | EDJ-KQ11369 | Human | 386684 | Details Get a Quote |
| KRTAP12-4 Knockout HeLa Cell Line | EDJ-KQ59964 | Human | 386684 | Details Get a Quote |
| KRTAP12-4 Knockout A-549 Cell Line | EDJ-KQ68425 | Human | 386684 | Details Get a Quote |
| KRTAP12-4 Knockout HCT 116 Cell Line | EDJ-KQ76804 | Human | 386684 | Details Get a Quote |
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