MT1X

Chr 16

metallothionein 1X

Also known as: MT-1l, MT1

NCBI Gene: 4501ENSG00000187193UniProt: P80297

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

ResearchGenerating clinical summary…
0
Active trials
23
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.90
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?
1.90LOEUF
pLI 0.001
Z-score -0.41
OE 1.25 (0.57–1.90)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.88 (0.66–1.20)
29 obs / 32.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.25 (0.57–1.90)
0≤0.351.4
Missense OE?0.88 (0.66–1.20)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 4 / 3.2Missense obs/exp: 29 / 32.8Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MT1X · 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