PPA2

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. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells.

Pyrophosphatase (Inorganic) 2

Hydrolyzes inorganic pyrophosphate (PubMed:27523597).
This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).

Diphosphate metabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Phosphate-containing compound metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Regulation of mitochondrial membrane potentialManual Assertion Based On ExperimentIMP:UniProtKB

Mitochondrion

Sudden cardiac failure, alcohol-induced (SCFAI):
An autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol.
Sudden cardiac failure, infantile (SCFI):
A disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance.