Function
Hydrolyzes inorganic pyrophosphate. This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function.
Biological Context
Subcellular Location: Mitochondrion
Tissue Specificity: Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium
Disease Association: 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. [The disease is caused by variants affecting the gene represented in this entry] | 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Inorganic pyrophosphatase 2, mitochondrial (PPA2) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 33-334aa, with C-terminal 6xHis-tagged tag, molecular weight 41.6kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
