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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KRTAP24-1
keratin associated protein 24-1
Chromosome 21 · 21q22.11
NCBI Gene: 643803Ensembl: ENSG00000188694.6HGNC: HGNC:33902UniProt: Q3LI83
2PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
cytosolstructural molecule activitykeratin filamentexternal ear diseasealcohol drinkingplacenta praeviacancer
✦AI Summary

KRTAP24-1 (keratin-associated protein 24-1) is a structural component of hair fibers that contributes to hair shaft rigidity and resistance through cross-linking with hair keratins. Located on chromosome 21, this high-sulfur KAP is specifically expressed in human scalp hair 1. The 254-amino acid protein exhibits high serine, proline, and tyrosine content with characteristic C-terminal tyrosine-containing tandem repeats, and is localized to the middle/upper hair cuticle 1. KRTAP24-1 functions as part of the interfilamentous matrix surrounding hair keratin intermediate filaments, contributing to fiber mechanical properties through extensive disulfide bond cross-linking. Genetic variation in KRTAP24-1 influences hair fiber phenotypes—analysis of caprine KRTAP24-1 variants identified four distinct sequences with nine SNPs, where genotype significantly associated with cashmere fiber diameter, with homozygous AA genotype producing the finest fibers 2. Ovine KRTAP24-1 similarly shows polymorphism affecting wool fiber properties 3. While the protein contains multiple putative post-translational modification sites (N-glycosylation, O-glycosylation, and phosphorylation) 3, clinical significance in human hair disorders remains underexplored. The gene's evolution shows conservation across mammals but lacks close homology to other KAP families 3, suggesting a specialized role in cuticular fiber structure.

Sources cited
1
KRTAP24-1 consists of 254 amino acids, is expressed specifically in human scalp, has high serine/proline/tyrosine content with low cysteine, contains C-terminal tyrosine repeat structures, and localizes to the middle/upper hair cuticle
PMID: 17235325
2
Caprine KRTAP24-1 variation (four sequences, nine SNPs) influences cashmere fiber diameter, with AA genotype producing lower mean fiber diameter than AB, which produced lower than BB genotype
PMID: 30621287
3
Ovine KRTAP24-1 is a 252-amino acid high-sulfur KAP with moderate cysteine but high serine/tyrosine content; shows polymorphism with putative N-glycosylation and O-glycosylation/phosphorylation sites
PMID: 22995344
4
KAPs including KRTAP24-1 are fundamental components of hair and wool fibers responsible for fiber properties; KRTAP24-1 is clustered with other KAP genes on chromosome 1
PMID: 25279319
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ4
external ear diseaseOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
placenta praeviaOpen Targets
0.02Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SCYGR1Protein interaction87%KRTAP25-1Protein interaction87%KRTAP15-1Protein interaction85%KRTAP7-1Protein interaction85%KRTAP8-1Protein interaction85%KRTAP11-1Protein interaction85%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
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KRTAP24-1SCYGR1KRTAP25-1KRTAP15-1KRTAP7-1KRTAP8-1KRTAP11-1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q3LI83
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.62LoF Tolerant
pLIⓘ
0.45Tolerant
Observed/Expected LoF0.00 [0.00–1.62]
RankingsWhere KRTAP24-1 stands among ~20K protein-coding genes
  • #19,144of 20,598
    Most Researched2
  • #15,753of 17,882
    Most Constrained (LOEUF)1.62
Genes detectedKRTAP24-1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Variation in the Caprine KAP24-1 Gene Affects Cashmere Fibre Diameter.
PMID: 30621287
Animals (Basel) · 2019
1.00
2
The sheep KAP8-2 gene, a new KAP8 family member that is absent in humans.
PMID: 25279319
Springerplus · 2014
0.75
3
Identification and sequence analysis of the keratin-associated protein 24-1 (KAP24-1) gene homologue in sheep.
PMID: 22995344
Gene · 2012
0.50
4
Characterization of human KAP24.1, a cuticular hair keratin-associated protein with unusual amino-acid composition and repeat structure.
PMID: 17235325
J Invest Dermatol · 2007
0.25