KRTAP10-3

Chr 21

keratin associated protein 10-3

Also known as: KAP10.3, KAP18-3, KAP18.3, KRTAP10.3, KRTAP18-3, KRTAP18.3

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
1.41
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.41LOEUF
pLI 0.024
Z-score 0.96
OE 0.56 (0.251.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.68Z-score
OE missense 1.41 (1.251.59)
187 obs / 132.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.56 (0.251.41)
00.351.4
Missense OE?1.41 (1.251.59)
00.61.4
Synonymous OE?1.40
01.21.6
LoF obs/exp: 3 / 5.4Missense obs/exp: 187 / 132.7Syn Z: -2.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRTAP10-3 · 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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