KRTAP10-6

Chr 21

keratin associated protein 10-6

Also known as: KAP10.6, KAP18.6, KRTAP18-6, KRTAP18.6

NCBI Gene: 386674 ENSG00000188155 UniProt: P60371

This gene encodes a keratin-associated protein that forms disulfide cross-links with hair keratins in the hair cortex, creating the rigid matrix essential for normal hair shaft structure. The gene is not highly constrained against loss-of-function variants and no established human disease associations have been reported for mutations in KRTAP10-6.

ResearchSummary from RefSeq, UniProt

Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.94

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.94LOEUF

pLI 0.000

Z-score -1.45

OE 1.60 (0.95–1.94)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.65Z-score

OE missense 1.33 (1.20–1.47)

264 obs / 198.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.60 (0.95–1.94)

0≤0.351.4

Missense OE?1.33 (1.20–1.47)

0≤0.61.4

Synonymous OE?1.43

0≤1.21.6

LoF obs/exp: 11 / 6.9Missense obs/exp: 264 / 198.7Syn Z: -3.19

Background carrier burden — how many people carry a rare variant somewhere in KRTAP10-6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 48

392 rare PASS variants

Rare truncating (LoF)

1 in 220

70 rare PASS variants

Rare synonymous (reference)

1 in 110

155 rare PASS variants

Rare missense and truncating variants are carried at similar rates in KRTAP10-6; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 55	1 in 810
South Asian	~43k	1 in 69	1 in 790
Remaining (unassigned)	~30k	1 in 45	1 in 190
European (Finnish)	~27k	1 in 130	≈ 1 in 13,000
Admixed American	~22k	1 in 41	1 in 120
African / African American	~21k	1 in 54	1 in 90
East Asian	~20k	1 in 67	1 in 140
Ashkenazi Jewish	~13k	1 in 120	1 in 810
Middle Eastern	~2,884	1 in 63	1 in 410

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 1 coding exons well covered in gnomAD exomes. Genomes: 0 of 1 (exon 1 below).? see exons ↓