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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRTAP20-1
keratin associated protein 20-1
Chromosome 21 Β· 21q22.11
NCBI Gene: 337975Ensembl: ENSG00000244624.3HGNC: HGNC:18943UniProt: Q3LI63
3PubMed Papers
2Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
cytosolpreeclampsiaalopecia
✦AI Summary

Based on limited published evidence, KRTAP20-1 encodes a keratin-associated protein (KAP) that functions in hair shaft structure. According to UniProt annotations, KRTAP20-1 is embedded in the interfilamentary matrix of hair cortex, contributing to hair rigidity and resistance through disulfide bond cross-linking with hair keratins [UniProt]. In sheep, KRTAP20-1 variants associate with wool traits including fiber diameter and fleece weight 1. The protein localizes to the cytosol [GO]. Notably, unlike most KAPs, ovine KRTAP20-1 variants show functional effects independent of nearby KRTAP genes, suggesting distinct structural roles in fiber formation 1.

Sources cited
1
KRTAP20-1 variants in sheep associate with decreased mean fiber diameter and effects on wool yield independent of nearby KRTAP genes
PMID: 30535023
2
KRTAP36-1 variant associations with wool prickle factor persist after correcting for linkage to proximal KRTAP20-1
PMID: 31717789
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜2
preeclampsiaOpen Targets
0.08Suggestive
alopeciaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
KRTAP24-1Protein interaction85%KRTAP26-1Protein interaction81%KRTAP6-3Protein interaction81%KRTAP13-1Protein interaction78%KRTAP27-1Protein interaction73%SCYGR1Protein interaction72%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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KRTAP20-1KRTAP24-1KRTAP26-1KRTAP6-3KRTAP13-1KRTAP27-1SCYGR1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q3LI63
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.49 [0.75–1.93]
RankingsWhere KRTAP20-1 stands among ~20K protein-coding genes
  • #18,883of 20,598
    Most Researched3
  • #17,495of 17,882
    Most Constrained (LOEUF)1.93
Genes detectedKRTAP20-1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Associations between variation in the ovine high glycine-tyrosine keratin-associated protein gene KRTAP20-1 and wool traits.
PMID: 30535023
J Anim Sci Β· 2019
1.00
2
Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine.
PMID: 31717789
Genes (Basel) Β· 2019
0.50