TRABD

Chr 22

TraB domain containing

Also known as: LP6054, PP2447

NCBI Gene: 80305 ENSG00000170638 UniProt: Q9H4I3 OMIM: 621246

The TRABD protein promotes mitochondrial clustering and fusion along with other proteins and may facilitate mitochondrial protein import. Mutations in TRABD cause autosomal recessive mitochondrial disorders, though the specific phenotypic spectrum is still being characterized. The gene shows moderate constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Enables mitochondrion-mitochondrion outer membrane tether activity. Involved in mitochondrial fusion and protein localization to mitochondrion. Located in mitochondrion. Part of TOM complex. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.66

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.66LOEUF

pLI 0.023

Z-score 2.62

OE 0.33 (0.18–0.66)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.93Z-score

OE missense 0.84 (0.75–0.94)

224 obs / 266.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.33 (0.18–0.66)

0≤0.351.4

Missense OE?0.84 (0.75–0.94)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 6 / 18.0Missense obs/exp: 224 / 266.8Syn Z: -0.67

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

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

517 rare PASS variants

Rare truncating (LoF)

1 in 2,300

72 rare PASS variants

Rare synonymous (reference)

1 in 120

259 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRABD. 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 140	1 in 2,600
South Asian	~43k	1 in 98	1 in 6,000
Remaining (unassigned)	~30k	1 in 110	1 in 3,400
European (Finnish)	~27k	1 in 330	1 in 2,900
Admixed American	~22k	1 in 110	1 in 1,700
African / African American	~21k	1 in 95	≈ 1 in 4,900
East Asian	~20k	1 in 91	1 in 1,600
Ashkenazi Jewish	~13k	1 in 450	1 in 610
Middle Eastern	~2,884	1 in 75	≈ 1 in 650

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): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓