KRT83

Chr 12

keratin 83

Also known as: EKVP5, HB3, Hb-3, KRTHB3, MNLIX, MNLIX3

NCBI Gene: 3889ENSG00000170523UniProt: P78385

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 KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtErythrokeratodermia variabilis et progressiva 5
UniProtMonilethrix 3

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
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.41
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?
1.41LOEUF
pLI 0.000
Z-score 0.09
OE 0.98 (0.69–1.41)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.24Z-score
OE missense 1.20 (1.10–1.31)
365 obs / 304.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.69–1.41)
0≤0.351.4
Missense OE?1.20 (1.10–1.31)
0≤0.61.4
Synonymous OE?1.23
0≤1.21.6
LoF obs/exp: 21 / 21.5Missense obs/exp: 365 / 304.2Syn Z: -2.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KRT83 · 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