MTX1

Chr 1

metaxin 1

Also known as: MTX, MTXN

NCBI Gene: 4580 ENSG00000173171 UniProt: Q13505 OMIM: 600605

Predicted to be involved in mitochondrial outer membrane translocase complex assembly and protein insertion into mitochondrial outer membrane. Located in mitochondrion. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

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

Background carrier burden — how many people carry a rare variant somewhere in MTX1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 75

543 rare PASS variants

Rare truncating (LoF)

1 in 1,100

74 rare PASS variants

Rare synonymous (reference)

1 in 230

238 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MTX1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 98	1 in 1,500
South Asian	~43k	1 in 100	1 in 390
Remaining (unassigned)	~30k	1 in 77	1 in 660
European (Finnish)	~27k	1 in 210	1 in 4,800
Admixed American	~22k	1 in 59	1 in 630
African / African American	~21k	1 in 72	1 in 430
East Asian	~20k	1 in 110	1 in 400
Ashkenazi Jewish	~13k	1 in 280	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 94	≈ 1 in 1,200

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 6 of 8 coding exons well covered in gnomAD exomes; exons 7, 8 poorly covered. Genomes: 6 of 8 (exons 7, 8 below).? see exons ↓