TIMM22

Chr 17AR

translocase of inner mitochondrial membrane 22

Also known as: COXPD43, TEX4, TIM22

Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Combined oxidative phosphorylation deficiency 43MIM #618851
AR

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARLimitednot for standalone diagnostic reporting
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.64
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.64LOEUF
pLI 0.000
Z-score 0.25
OE 0.90 (0.511.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.06 (0.911.23)
125 obs / 118.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.511.64)
00.351.4
Missense OE?1.06 (0.911.23)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 7 / 7.8Missense obs/exp: 125 / 118.3Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TIMM22 · 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 →