KRTAP5-10

Chr 11

keratin associated protein 5-10

Also known as: KRTAP5.10

NCBI Gene: 387273 ENSG00000204572 UniProt: Q6L8G5

This protein is a keratin-associated protein that forms cross-links with hair keratins through disulfide bonds to create the rigid matrix structure of the hair shaft. The gene is not well-constrained against loss-of-function variants (LOEUF 1.975) and currently has no established disease associations in pediatric populations. KRTAP5-10 mutations have not been linked to recognized neurologic or developmental disorders.

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

1.98

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.98LOEUF

pLI 0.000

Z-score -3.25

OE 4.22 (1.04–1.98)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.33Z-score

OE missense 1.36 (1.19–1.56)

145 obs / 106.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?4.22 (1.04–1.98)

0≤0.351.4

Missense OE?1.36 (1.19–1.56)

0≤0.61.4

Synonymous OE?1.31

0≤1.21.6

LoF obs/exp: 5 / 1.2Missense obs/exp: 145 / 106.3Syn Z: -1.68

Background carrier burden — how many people carry a rare variant somewhere in KRTAP5-10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

239 rare PASS variants

Rare truncating (LoF)

1 in 620

37 rare PASS variants

Rare synonymous (reference)

1 in 160

83 rare PASS variants

Rare missense and truncating variants are carried at similar rates in KRTAP5-10; 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 220	1 in 870
South Asian	~43k	1 in 150	1 in 1,600
Remaining (unassigned)	~30k	1 in 88	1 in 2,300
European (Finnish)	~27k	1 in 750	1 in 4,500
Admixed American	~22k	1 in 150	1 in 440
African / African American	~21k	1 in 150	1 in 230
East Asian	~20k	1 in 230	1 in 970
Ashkenazi Jewish	~13k	1 in 980	none seen
Middle Eastern	~2,884	1 in 84	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 ↓