This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. (provided by RefSeq, Feb 2010)
Function
molecular_function;
Synonyms
TMEM70; transmembrane protein 70; MC5DN2; transmembrane protein 70, mitochondrial;
Citations
Publication ()
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COA
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