TIMM10

Chr 11

translocase of inner mitochondrial membrane 10

Also known as: TIM10, TIM10A, TIMM10A

NCBI Gene: 26519 ENSG00000134809 UniProt: P62072 OMIM: 602251

The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TIMM10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,300

88 rare PASS variants

Rare truncating (LoF)

1 in 3,600

25 rare PASS variants

Rare synonymous (reference)

1 in 2,800

44 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TIMM10; this gene does not show strong loss-of-function constraint by this measure. 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 1,400	1 in 3,100
South Asian	~43k	1 in 2,900	1 in 4,300
Remaining (unassigned)	~30k	1 in 1,200	1 in 5,000
European (Finnish)	~27k	≈ 1 in 6,700	none seen
Admixed American	~22k	1 in 450	1 in 2,200
African / African American	~21k	1 in 1,300	≈ 1 in 8,400
East Asian	~20k	1 in 900	≈ 1 in 9,900
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,884	≈ 1 in 2,700	none seen

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.