MTX1

Chr 1

metaxin 1

Also known as: MTX, MTXN

NCBI Gene: 4580ENSG00000173171UniProt: Q13505OMIM: 600605

Predicted to be involved in mitochondrion organization. Located in mitochondrion. Part of SAM complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.013
Z-score 2.40
OE 0.36 (0.20–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.19Z-score
OE missense 1.04 (0.92–1.17)
197 obs / 189.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.36 (0.20–0.72)
0≤0.351.4
Missense OE?1.04 (0.92–1.17)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 6 / 16.5Missense obs/exp: 197 / 189.6Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTX1 · 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