KRT71

Chr 12

keratin 71

Also known as: HYPT13, K6IRS1, KRT6IRS, KRT6IRS1

Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypotrichosis 13
0
Active trials
14
Pubs (1 yr)
P/LP submissions
P/LP missense
0.95
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?
0.95LOEUF
pLI 0.000
Z-score 1.76
OE 0.59 (0.390.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.41Z-score
OE missense 1.06 (0.971.16)
340 obs / 319.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.59 (0.390.95)
00.351.4
Missense OE?1.06 (0.971.16)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 13 / 21.9Missense obs/exp: 340 / 319.4Syn Z: 0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT71 · 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 →