KRTAP10-5

Chr 21

keratin associated protein 10-5

Also known as: KAP10.5, KAP18-5, KAP18.5, KRTAP10.5, KRTAP18-5, KRTAP18.1, KRTAP18.5

NCBI Gene: 386680 ENSG00000241123 UniProt: P60370

The protein forms disulfide bonds with hair keratins to create the structural matrix essential for rigid hair shaft formation. Mutations cause autosomal recessive woolly hair, a condition characterized by tightly curled, fine hair texture present from birth. This gene shows low constraint against loss-of-function variants, consistent with its tissue-specific role in hair structure rather than essential cellular functions.

ResearchSummary from RefSeq, UniProt

This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.40

LOEUF

Multiple*

Mechanism· predicted