KRTAP10-3
Chr 21keratin associated protein 10-3
Also known as: KAP10.3, KAP18-3, KAP18.3, KRTAP10.3, KRTAP18-3, KRTAP18.3
This protein is a high-sulfur keratin-associated protein that forms cross-linked disulfide bonds with hair keratins to create the rigid matrix structure of hair shafts. Mutations in KRTAP10-3 cause autosomal recessive woolly hair, a condition characterized by tightly curled, fine hair texture present from birth. The gene shows low constraint against loss-of-function variants, consistent with its hair-specific function and recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
KRTAP10-3 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools