KRTAP5-7

Chr 11

keratin associated protein 5-7

Also known as: KRTAP5-3, KRTAP5.7

NCBI Gene: 440050 ENSG00000244411 UniProt: Q6L8G8

The KRTAP5-7 protein is a keratin-associated protein that forms an interfilamentous matrix in hair cortex by cross-linking with hair keratins through disulfide bonds, creating the rigid and resistant hair shaft structure. Currently, no human diseases have been definitively associated with mutations in this gene. The gene shows low constraint against loss-of-function variants (LOEUF 1.89), suggesting tolerance to such mutations.

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

1.89

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?

1.89LOEUF

pLI 0.091

Z-score -0.01

OE 1.01 (0.27–1.89)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.23Z-score

OE missense 1.38 (1.18–1.60)

117 obs / 85.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.01 (0.27–1.89)

0≤0.351.4

Missense OE?1.38 (1.18–1.60)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 1 / 1.0Missense obs/exp: 117 / 85.0Syn Z: -0.01

Background carrier burden — how many people carry a rare variant somewhere in KRTAP5-7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

177 rare PASS variants

Rare truncating (LoF)

1 in 250

27 rare PASS variants

Rare synonymous (reference)

1 in 290

64 rare PASS variants

Rare missense and truncating variants are carried at similar rates in KRTAP5-7; 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 190	1 in 470
South Asian	~43k	1 in 210	1 in 640
Remaining (unassigned)	~30k	1 in 120	none seen
European (Finnish)	~27k	1 in 190	1 in 2,400
Admixed American	~22k	1 in 110	1 in 480
African / African American	~21k	1 in 89	1 in 300
East Asian	~20k	1 in 180	1 in 520
Ashkenazi Jewish	~13k	1 in 210	1 in 1,400
Middle Eastern	~2,884	1 in 140	none seen

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 ↓