KRTAP23-1 Gene: Keratin Associated Protein 23-1
A comprehensive biomedical overview of the KRTAP23-1 gene, including genomic context, expression, and clinical relevance.
Gene Information Card
| Symbol | KRTAP23-1 |
|---|---|
| Full Name | Keratin Associated Protein 23-1 |
| Gene Type | protein coding |
| Chromosomal Location | 21q22.11 |
| NCBI Gene ID | 100288583 ncbi.nlm.nih.gov/gene/100288583 |
| Ensembl ID | ENSG00000205758 |
| UniProt ID | Q6PEU0 |
| OMIM ID | 616850 |
| HGNC ID | 33534 |
| Aliases | KAP23-1, KRTAP23.1 |
Description
KRTAP23-1 (Keratin Associated Protein 23-1) is a protein-coding gene located on chromosome 21q22.11. It encodes a member of the keratin-associated protein (KAP) family, which are structural components of hair and nails. KAPs are characterized by high cysteine or glycine-tyrosine content and interact with keratin intermediate filaments to form the rigid structure of hair shafts. KRTAP23-1 is specifically expressed in the hair follicle and contributes to hair fiber properties. The gene is part of a cluster of KAP genes on chromosome 21, and its expression is regulated during hair follicle development and cycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Woolly hair | Potential involvement in hair shaft structure; mutations may disrupt keratin cross-linking, but direct evidence is limited. | No direct clinical association reported in OMIM or ClinVar; inferred from KAP family function. |
| Hair shaft disorders | Altered KRTAP23-1 expression could affect hair strength and integrity, but specific pathogenic variants are not documented. | No direct evidence; based on functional homology. |
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 |
|---|---|---|
| No cell line data available | Not available | No expression data in common cell lines. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No documented pathogenic variants | Not applicable | Not applicable | No clinical significance reported. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for KRTAP23-1.
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 | • keratin filament binding |
| • biological_process: hair cycle |
Pathways
• Keratinization
• Formation of the cornified envelope
Protein Summary
The KRTAP23-1 protein is a small, cysteine-rich protein (approximately 8 kDa) that belongs to the high-sulfur keratin-associated protein family. It is synthesized in the hair follicle cortex and cross-links with keratin intermediate filaments via disulfide bonds, contributing to the mechanical strength and rigidity of the hair shaft. The protein contains a characteristic cysteine-rich domain that facilitates intermolecular disulfide bonding. Its expression is tightly regulated during hair growth, and it is a key component of the hair fiber's matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRTAP23-1 Knockout HEK293 Cell Line | EDJ-KQ12089 | Human | 337963 | Details Get a Quote |
| KRTAP23-1 Knockout A-549 Cell Line | EDJ-KQ40751 | Human | 337963 | Details Get a Quote |
| KRTAP23-1 Knockout HCT 116 Cell Line | EDJ-KQ40752 | Human | 337963 | Details Get a Quote |
| KRTAP23-1 Knockout HeLa Cell Line | EDJ-KQ40753 | Human | 337963 | Details Get a Quote |
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