Transmembrane Protein 70 (TMEM70)

TMEM70 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.

The deduced protein contains a conserved DUF1301 domain and 2 putative transmembrane regions. RT-PCR detected TMEM70 in all tissues examined, which included liver, muscle, kidney, and pancreas, as well as in fibroblasts. Phylogenetic analysis revealed TMEM70 orthologs in multicellular eukaryotes and plants, but not in yeast and fungi.