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).
Proteins
39646Da
We found 6 products in 1 category
ab204486
ab23938