2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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4PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinglaterality defects, autosomal dominantneuronal ceroid lipofuscinosis 1immunodeficiency 80 with or without congenital cardiomyopathythrombophilia
Based on limited published evidence, KRTAP7-1 encodes a keratin-associated protein (KAP) component of the hair shaft matrix. According to UniProt annotations, KRTAP7-1 proteins are embedded within hair cortex interfilamentary matrices where they form extensive disulfide bond cross-links with cysteine-rich hair keratins, essential for rigid and resistant hair shaft formation 1. KRTAP7-1 belongs to the high-sulfur or high-glycine-tyrosine KAP subfamilies and exhibits protein binding activity. The gene is part of a clustered KRTAP gene family on chromosome 21 2.
1
Describes updated nomenclature for keratin-associated proteins and their role in hair/wool fiber structure
PMID: 222989532
Identifies KRTAP7-1 as part of a clustered KRTAP gene family and describes KAP subfamily classifications
PMID: 25279319⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
laterality defects, autosomal dominantOpen Targets
neuronal ceroid lipofuscinosis 1Open Targets
immunodeficiency 80 with or without congenital cardiomyopathyOpen Targets
thrombophiliaOpen Targets
alcohol drinkingOpen Targets
hypothyroidismOpen Targets
No pathogenic variants reported on ClinVar for this gene.