KRTAP4-16: Keratin Associated Protein 4-16
A member of the keratin-associated protein family involved in hair shaft structure.
Gene Information Card
| Symbol | KRTAP4-16 |
|---|---|
| Full Name | Keratin Associated Protein 4-16 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 100505484 ncbi.nlm.nih.gov/gene/100505484 |
| Ensembl ID | ENSG00000206195 |
| UniProt ID | Q9BYR8 |
| OMIM ID | 620341 |
| HGNC ID | 37243 |
| Aliases | KAP4.16, KRTAP4.16 |
Description
KRTAP4-16 (Keratin Associated Protein 4-16) is a protein-coding gene located on chromosome 17q21.2. It belongs to the keratin-associated protein (KAP) family, which are structural components of hair and contribute to the formation of the hair shaft through disulfide cross-linking with keratin intermediate filaments.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structural integrity | No direct evidence in ClinVar or OMIM for KRTAP4-16; inferred from family function |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Not available |
| Hair follicle | Not available | Not available |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | No data in public resources |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Protein Summary
KRTAP4-16 is a keratin-associated protein that likely cross-links with hair keratins to provide mechanical strength and rigidity to the hair shaft. Its specific function has not been experimentally characterized in detail.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP4-16 Knockout HEK293 Cell Line | EDJ-KQ10343 | Human | 85354 | Details Get a Quote |
| KRTAP4-16 Knockout HCT 116 Cell Line | EDJ-KQ36399 | Human | 85354 | Details Get a Quote |
| KRTAP4-16 Knockout A-549 Cell Line | EDJ-KQ37644 | Human | 85354 | Details Get a Quote |
| KRTAP4-16 Knockout HeLa Cell Line | EDJ-KQ37646 | Human | 85354 | Details Get a Quote |
