KRT81

Chr 12

keratin 81

Also known as: HB1, Hb-1, K81, KRTHB1, MLN137, MNLIX2, ghHkb1, hHAKB2-1

NCBI Gene: 3887ENSG00000205426UniProt: Q14533

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. Some human genome assemblies (example T2T-CHM13) have a non-coding version of the gene due to the presence of a SNP that introduces a premature stop codon after codon 281. [provided by RefSeq, Jan 2024]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMonilethrix 2

Clinical highlights

Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
DN*
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -1.76
OE 1.48 (1.05–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.30Z-score
OE missense 1.05 (0.95–1.16)
280 obs / 266.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.48 (1.05–1.91)
0≤0.351.4
Missense OE?1.05 (0.95–1.16)
0≤0.61.4
Synonymous OE?1.17
0≤1.21.6
LoF obs/exp: 23 / 15.5Missense obs/exp: 280 / 266.4Syn Z: -1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT81 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients