TIMM22
Function
Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity).
Involvement in disease
Combined oxidative phosphorylation deficiency 43
COXPD43
An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Disulfide bonds promote efficient assembly of the TIM22 complex.
Sequence Similarities
Belongs to the Tim17/Tim22/Tim23 family.
Cellular localization
- Mitochondrion inner membrane
- Multi-pass membrane protein
Alternative names
TEX4, TIM22, TIMM22, Mitochondrial import inner membrane translocase subunit Tim22, Testis-expressed protein 4