KRTAP5-11

Chr 11

keratin associated protein 5-11

Also known as: KRTAP5-6, KRTAP5.11

NCBI Gene: 440051 ENSG00000204571 UniProt: Q701N2

The KRTAP5-11 protein is a keratin-associated protein that forms cross-links with hair keratins through disulfide bonds to create the rigid matrix essential for normal hair shaft structure. Mutations in this gene cause hair shaft abnormalities and structural hair disorders with autosomal dominant or recessive inheritance patterns. The gene shows moderate tolerance to loss-of-function variants, suggesting some functional redundancy within the keratin-associated protein family.

ResearchSummary from RefSeq, UniProt

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

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

—

P/LP missense

1.75

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.75LOEUF

pLI 0.382

Z-score 0.88

OE 0.00 (0.00–1.75)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.93Z-score

OE missense 1.30 (1.10–1.53)

101 obs / 78.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.00 (0.00–1.75)

0≤0.351.4

Missense OE?1.30 (1.10–1.53)

0≤0.61.4

Synonymous OE?1.43

0≤1.21.6

LoF obs/exp: 0 / 0.9Missense obs/exp: 101 / 78.0Syn Z: -1.92

Background carrier burden — how many people carry a rare variant somewhere in KRTAP5-11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

220 rare PASS variants

Rare truncating (LoF)

1 in 3,600

22 rare PASS variants

Rare synonymous (reference)

1 in 810

90 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for KRTAP5-11. 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 180	1 in 5,900
South Asian	~43k	1 in 180	≈ 1 in 22,000
Remaining (unassigned)	~30k	1 in 120	≈ 1 in 7,500
European (Finnish)	~27k	1 in 1,500	≈ 1 in 27,000
Admixed American	~22k	1 in 150	≈ 1 in 4,500
African / African American	~21k	1 in 170	1 in 1,900
East Asian	~20k	1 in 320	1 in 1,400
Ashkenazi Jewish	~13k	1 in 1,500	none seen
Middle Eastern	~2,884	1 in 310	≈ 1 in 2,500

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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓