PPA2 gene

inorganic pyrophosphatase 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Sudden cardiac failure, infantile
  • Sudden cardiac failure, alcohol-induced

From UniProt:

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. [MIM:617222]

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. [MIM:617223]

Cytogenetic Location: 4q24, which is the long (q) arm of chromosome 4 at position 24

Molecular Location: base pairs 105,369,077 to 105,474,070 on chromosome 4 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 4q24, which is the long (q) arm of chromosome 4 at position 24
  • HSPC124
  • SCFI
  • SID6-306