KRTAP20-3 Gene: Structure, Function, and Clinical Relevance
A comprehensive overview of the keratin-associated protein 20-3 gene, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | KRTAP20-3 |
|---|---|
| Full Name | Keratin Associated Protein 20-3 |
| Gene Type | protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 337977 ncbi.nlm.nih.gov/gene/337977 |
| Ensembl ID | ENSG00000205731 |
| UniProt ID | Q3LI66 |
| OMIM ID | 616249 |
| HGNC ID | 33880 |
| Aliases | KRTAP20.3, KAP20.3 |
Description
KRTAP20-3 encodes a keratin-associated protein (KAP) that is a component of the hair fiber. KAPs are structural proteins that cross-link with keratin intermediate filaments to provide strength and rigidity to hair. KRTAP20-3 belongs to the high-sulfur KAP family and is expressed primarily in the hair cortex. Its gene is located in a cluster of KAP genes on chromosome 21. While its exact role in hair physiology is not fully characterized, mutations or altered expression may affect hair structure and have been implicated in certain hair disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft integrity; specific mechanism not fully established. | Limited evidence from case reports; not yet confirmed in large cohorts. |
| Hair shaft disorders | Altered KAP expression may disrupt keratin cross-linking, affecting hair strength. | Inferred from functional studies of other KAP genes; direct evidence for KRTAP20-3 lacking. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Not detected in standard GTEx analysis |
| Hair follicle | Not available | Expected high expression based on gene family; not quantified in GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | Not available | Low expression; not a primary site |
| Primary keratinocytes | Not available | Low expression; not a primary site |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs145985876 | SNV (missense) | 0.1% (global) | Potential impact on protein structure; clinical significance unknown |
| rs148202434 | SNV (missense) | 0.05% (global) | Potential impact on protein structure; clinical significance unknown |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported in KRTAP20-3.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of skin epidermis | • keratinization |
| • hair follicle development |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP20-3 protein is a small, cysteine-rich protein (approximately 10 kDa) that belongs to the high-sulfur keratin-associated protein family. It is synthesized in the hair cortex and cross-links with keratin intermediate filaments via disulfide bonds, contributing to the mechanical strength and rigidity of hair. The protein contains a characteristic cysteine-rich domain that facilitates disulfide bonding. Its precise three-dimensional structure has not been resolved, but it is predicted to be largely unstructured, allowing flexible interactions with keratin filaments.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP20-3 Knockout HEK293 Cell Line | EDJ-KQ12116 | Human | 337985 | Details Get a Quote |
| KRTAP20-3 Knockout A-549 Cell Line | EDJ-KQ40797 | Human | 337985 | Details Get a Quote |
| KRTAP20-3 Knockout HCT 116 Cell Line | EDJ-KQ40798 | Human | 337985 | Details Get a Quote |
| KRTAP20-3 Knockout HeLa Cell Line | EDJ-KQ40799 | Human | 337985 | Details Get a Quote |
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