KRTAP10-2

Chr 21

keratin associated protein 10-2

Also known as: KAP10.2, KAP18-2, KAP18.2, KRTAP10.2, KRTAP18-2, KRTAP18.2

NCBI Gene: 386679 ENSG00000205445 UniProt: P60368

The protein is a high-sulfur keratin-associated protein that forms a matrix with keratin intermediate filaments through extensive disulfide cross-linking, providing structural integrity to hair shafts. Mutations in this gene have not been definitively associated with any recognized disease phenotypes in current medical literature. The gene shows tolerance to loss-of-function variants, consistent with its specific role in hair fiber structure rather than essential cellular processes.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the high sulfur-type keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. This gene is located in a cluster of similar genes on 21q22.3. Alternatively-spliced transcript variants have been identified. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.81

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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