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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.
KRTAP4-3
keratin associated protein 4-3
Chromosome 17 Β· 17q21.2
NCBI Gene: 85290Ensembl: ENSG00000196156.5HGNC: HGNC:18908UniProt: Q9BYR4
3PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hair cyclecytosolkeratin filamentAbruptio Placentaeatopic eczemapsoriasisSjogren syndrome
✦AI Summary

KRTAP4-3 encodes a keratin-associated protein (KRTAP) essential for hair shaft structure. Based on limited published evidence, KRTAP4-3 functions in the hair cortex matrix, where it cross-links with hair keratins via cysteine-rich disulfide bonds to form rigid, resistant hair shafts 1. The protein is expressed during hair follicle anagen and regresses during catagen and telogen phases 1. KRTAP4-3 was identified as potentially associated with carotid paraganglioma pathogenesis, though the mechanistic basis remains unclear 2.

Sources cited
1
Established KRTAP4-3 coding sequence and demonstrated its expression in wool follicles during anagen with gradual restriction during catagen and cessation during telogen
PMID: 19272529
2
Identified KRTAP4-3 as one of 34 genes potentially associated with carotid paraganglioma initiation and progression through whole exome sequencing analysis
PMID: 31397435
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜5
Abruptio PlacentaeOpen Targets
0.08Suggestive
atopic eczemaOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LOC100996750Shared pathway100%KRTAP4-9Shared pathway100%KRTAP4-16Shared pathway100%KRTAP4-4Protein interaction100%KRTAP4-5Protein interaction100%KRTAP1-3Protein interaction100%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
KRTAP4-3LOC100996750KRTAP4-9KRTAP4-16KRTAP4-4KRTAP4-5KRTAP1-3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BYR4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF2.40 [0.55–1.95]
RankingsWhere KRTAP4-3 stands among ~20K protein-coding genes
  • #18,886of 20,598
    Most Researched3
  • #17,646of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedKRTAP4-3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
[Novel Genes Associated with the Development of Carotid Paragangliomas].
PMID: 31397435
Mol Biol (Mosk) Β· 2019
1.00
2
Expression patterns of keratin intermediate filament and keratin associated protein genes in wool follicles.
PMID: 19272529
Differentiation Β· 2009
0.50