KRT74

Chr 12

keratin 74

Also known as: ADWH, ECTD7, HTSS2, HYPT3, K6IRS4, KRT5C, KRT6IRS4

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This protein belongs to a family of keratins that are specifically expressed in the inner root sheath of hair follicles.[provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtWoolly hair autosomal dominant
UniProtHypotrichosis 3
UniProtEctodermal dysplasia 7, hair/nail type
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.58
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?
1.58LOEUF
pLI 0.000
Z-score -0.37
OE 1.09 (0.771.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.20Z-score
OE missense 1.19 (1.091.30)
363 obs / 304.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.09 (0.771.58)
00.351.4
Missense OE?1.19 (1.091.30)
00.61.4
Synonymous OE?1.19
01.21.6
LoF obs/exp: 20 / 18.3Missense obs/exp: 363 / 304.0Syn Z: -1.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT74 · 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.

Search ClinicalTrials.gov →