Inorganic pyrophosphatase 2, mitochondrial
Definition:
Hydrolyzes inorganic pyrophosphate. This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function.
References:
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[1]. Anne Guimier, et al. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 2016 Sep 1;99(3):666-673. [Content Brief]
[2]. Hannah Kennedy, et al. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. Am J Hum Genet. 2016 Sep 1;99(3):674-682. [Content Brief]
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