KRTAP10-4

Chr 21

keratin associated protein 10-4

Also known as: KAP10.4, KAP18-4, KRTAP10.4, KRTAP18-4, KRTAP18.4

NCBI Gene: 386672 ENSG00000215454 UniProt: P60372

The encoded keratin-associated protein forms disulfide bonds with hair keratins to create the rigid structural matrix of hair shafts. Mutations in this gene are associated with 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 role in a non-life-threatening hair structure disorder.

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

1.74

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)