KRTAP1-3
Chr 17keratin associated protein 1-3
Also known as: KAP1.2, KAP1.3, KAP1.6, KAP1.8A, KAP1.8B, KAP1.9, KRTAP1.3
This protein forms part of the interfilamentous matrix in hair cortex by cross-linking with hair keratins through extensive disulfide bonds, creating the rigid and resistant structure of the hair shaft. Mutations in KRTAP1-3 cause autosomal dominant hair disorders through a dominant-negative mechanism. The protein's high cysteine content enables the essential cross-linking function that maintains hair fiber integrity.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KRTAP1-3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools