Gene Symbol | PPA2 |
Entrez Gene ID | 27068 |
Full Name | pyrophosphatase (inorganic) 2 |
Synonyms | HSPC124,SCFAI,SCFI,SID6-306 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Sudden cardiac failure, infantile, 617222 (3); ?Sudden cardiac failure, alcohol-induced, 617223 (3) |