KRT86

Chr 12

keratin 86

Also known as: HB6, Hb1, K86, KRTHB1, KRTHB6, MNX, NMLIX1

NCBI Gene: 3892ENSG00000170442UniProt: O43790

This gene encodes a type II keratin protein, which heterodimerizes with type I keratins to form hair and nails. This gene is present in a cluster of related genes and pseudogenes on chromosome 12. Mutations in this gene have been observed in patients with the hair disease monilethrix. [provided by RefSeq, Feb 2016]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMonilethrix 1

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
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
LOEUF
DN*
Mechanism· G2P
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GeneReview available — KRT86
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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?
1.20LOEUF
pLI 0.000
Z-score 0.98
OE 0.74 (0.47–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.27Z-score
OE missense 1.22 (1.11–1.34)
309 obs / 252.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.74 (0.47–1.20)
0≤0.351.4
Missense OE?1.22 (1.11–1.34)
0≤0.61.4
Synonymous OE?1.23
0≤1.21.6
LoF obs/exp: 12 / 16.3Missense obs/exp: 309 / 252.4Syn Z: -1.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT86 · 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