Aliases for TIMM50 Gene
External Ids for TIMM50 Gene
Previous GeneCards Identifiers for TIMM50 Gene
This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions 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. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
GeneCards Summary for TIMM50 Gene
TIMM50 (Translocase Of Inner Mitochondrial Membrane 50) is a Protein Coding gene. Diseases associated with TIMM50 include 3-Methylglutaconic Aciduria, Type Ix and 3-Methylglutaconic Aciduria. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include RNA binding and phosphoprotein phosphatase activity. An important paralog of this gene is CTDSPL2.
UniProtKB/Swiss-Prot Summary for TIMM50 Gene
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.