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The protein encoded by PPA2 is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase.
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findings confirm the pathogenicity of PPA2 mutations and suggest that PPA2 is a cardiomyopathy-associated protein, which has a greater physiological importance in mitochondrial function than previously recognized
data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants
Single nucleotide polymorphisms in PPA2 is associated with response to antipsychotic agents in schizophrenia.
We think that PP2A can be one of the key components to regulate the fusion of various endocytotic compartments and /or the trafficking along the microtubules.
No pathogenic mutations were identified in the PPA2 gene in patients with mitochondrial DNA depletion syndromes (MDS).
downregulation of protein phosphatase 2 activity in PINK1-silenced cells promotes the protective effect of autophagy through phosphorylation of Bcl-2 (show BCL2 ELISA Kits)
The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
, inorganic pyrophosphatase 2, mitochondrial
, pyrophosphatase SID6-306
, pyrophosphate phospho-hydrolase 2