KRTAP10-1

Chr 21

keratin associated protein 10-1

Also known as: KAP10.1, KAP18-1, KAP18.1, KRTAP10.1, KRTAP18-1, KRTAP18.1

This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.66
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.66LOEUF
pLI 0.000
Z-score 0.29
OE 0.88 (0.481.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.39Z-score
OE missense 1.31 (1.171.47)
212 obs / 162.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.481.66)
00.351.4
Missense OE?1.31 (1.171.47)
00.61.4
Synonymous OE?1.67
01.21.6
LoF obs/exp: 6 / 6.8Missense obs/exp: 212 / 162.1Syn Z: -4.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRTAP10-1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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