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TMEM70 transmembrane protein 70

Also known as: MC5DN2

Summary

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]

Genomic context

Location:
8q21.11
Sequence:
Chromosome: 8; NC_000008.11 (73976142..73982783)
Total number of exons:
4

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