TIMM50

The FCP1 homology domain does not contain the canonical D-x-D-x-[TV] active site, suggesting that it probably does not display phosphatase activity in vivo.

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.

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the TIM50 family.

Widely expressed. Expressed at higher level in brain, kidney and liver (at protein level).

• Mitochondrion inner membrane
• Single-pass membrane protein
• Isoform 2
• Nucleus speckle
• Nuclear and enriched in speckles with snRNPs.

TIM50, PRO1512, TIMM50, Mitochondrial import inner membrane translocase subunit TIM50

• entrezGene:92609
• omim:607381
• swissprot:Q3ZCQ8

Proteins

Metabolism

39646Da