MT1H

Chr 16

metallothionein 1H

Also known as: MT-0, MT-1H, MT-IH, MT1

NCBI Gene: 4496ENSG00000205358UniProt: P80294

Predicted to enable zinc ion binding activity. Involved in cellular response to cadmium ion and cellular response to zinc ion. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.86
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.86LOEUF
pLI 0.006
Z-score -0.01
OE 1.01 (0.43–1.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.46Z-score
OE missense 1.23 (0.95–1.59)
41 obs / 33.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.43–1.86)
0≤0.351.4
Missense OE?1.23 (0.95–1.59)
0≤0.61.4
Synonymous OE?1.50
0≤1.21.6
LoF obs/exp: 3 / 3.0Missense obs/exp: 41 / 33.4Syn Z: -1.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT1H · 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