KRTAP12-4

Chr 21

keratin associated protein 12-4

Also known as: KRTAP12.4

NCBI Gene: 386684 ENSG00000212933 UniProt: P60329

This gene encodes a hair keratin-associated protein that forms cross-links with hair keratins through disulfide bonds to create the rigid structure of the hair shaft. Currently, no human diseases have been definitively associated with mutations in KRTAP12-4. Any potential inheritance pattern would follow autosomal patterns given its chromosomal location.

Summary from RefSeq, UniProt

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Active trials

Pubs (1 yr)

P/LP submissions

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Clinical Summary— KRTAP12-4

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ClinVar Variants

88 unique Pathogenic / Likely Pathogenic· 38 VUS of 131 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

0.81top 10%

GOF

0.7029th %ile

LOF

0.2970th %ile

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.

DNprediction above median

GOFprediction above median

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.