KRTAP19-6: Keratin Associated Protein 19-6
A member of the keratin-associated protein family involved in hair shaft formation
Gene Information Card
| Symbol | KRTAP19-6 |
|---|---|
| Full Name | Keratin Associated Protein 19-6 |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337977 ncbi.nlm.nih.gov/gene/337977 |
| Ensembl ID | ENSG00000205670 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616888 |
| HGNC ID | 33837 |
| Aliases | KAP19.6, KRTAP19.6 |
Description
KRTAP19-6 encodes a member of the keratin-associated protein (KAP) family, specifically the high-sulfur KAP19 subfamily. These proteins are structural components of the hair shaft, cross-linking with keratin intermediate filaments to provide strength and rigidity. KRTAP19-6 is expressed primarily in the hair follicle cortex and contributes to hair fiber integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair (possible association) | Altered KAP expression may disrupt hair shaft structure | Limited; inferred from family member studies |
| Monilethrix (possible modifier) | Abnormal keratin cross-linking | Indirect; no direct evidence for KRTAP19-6 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Hair follicle | High | High (based on RNA-seq of hair follicle) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed |
| Primary hair follicle keratinocytes | High | High expression reported |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Unknown | Potential loss of start codon; no functional data |
| c.123C>T (p.Pro41=) | Synonymous | Unknown | No known effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
No dominant-negative mutations documented.
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
KRTAP19-6 is a small, cysteine-rich protein (approximately 10 kDa) belonging 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 the hair shaft. The protein is predominantly expressed in the hair follicle cortex during hair growth.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP19-6 Knockout HEK293 Cell Line | EDJ-KQ12059 | Human | 337973 | Details Get a Quote |
| KRTAP19-6 Knockout HeLa Cell Line | EDJ-KQ59595 | Human | 337973 | Details Get a Quote |
| KRTAP19-6 Knockout A-549 Cell Line | EDJ-KQ68060 | Human | 337973 | Details Get a Quote |
| KRTAP19-6 Knockout HCT 116 Cell Line | EDJ-KQ76437 | Human | 337973 | Details Get a Quote |
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