TIMM23

Chr 10

translocase of inner mitochondrial membrane 23

Also known as: TIM23

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
22
Pubs (1 yr)
P/LP submissions
P/LP missense
1.51
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.51LOEUF
pLI 0.005
Z-score 0.73
OE 0.68 (0.331.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.72Z-score
OE missense 0.70 (0.530.94)
33 obs / 46.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.331.51)
00.351.4
Missense OE?0.70 (0.530.94)
00.61.4
Synonymous OE?0.84
01.21.6
LoF obs/exp: 4 / 5.9Missense obs/exp: 33 / 46.8Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TIMM23 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →