TIMM50

TIMM50 is a subunit of the TIM23 inner mitochondrial membrane translocase complex. TIMM50 plays a role as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. TIMM50 may also function in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis.

Full Name

Translocase Of Inner Mitochondrial Membrane 50

Function

Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Has some phosphatase activity in vitro; however such activity may not be relevant in vivo.
Isoform 2
May participate in the release of snRNPs and SMN from the Cajal body.

Biological Process

Biological Process intracellular protein transportSource:ComplexPortal1 Publication
Biological Process mitochondrial membrane organizationSource:UniProtKB1 Publication
Biological Process protein dephosphorylationSource:UniProtKB1 Publication
Biological Process protein import into mitochondrial matrixSource:GO_Central1 Publication
Biological Process release of cytochrome c from mitochondriaSource:MGI1 Publication

Cellular Location

Mitochondrion inner membrane
Isoform 2
Nucleus speckle
Nuclear and enriched in speckles with snRNPs.

Involvement in disease

3-methylglutaconic aciduria 9 (MGCA9):
An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

Topology

Mitochondrial matrix: 45-65
Helical: 66-86
Mitochondrial intermembrane: 87-353