| Modification Notes |
TMEM70 (transmembrane protein 70) is a 260 amino acid multi-pass mitochondrial membrane protein that exists as multiple alternatively spliced isoforms which are expressed in pancreas, liver, muscle and kidney tissue. Mutations in the gene encoding TMEM70 are associated with ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy, suggesting that TMEM70 plays an important role in ADP-stimulated respiration, mitochondrial ATP synthesis, ATP hydrolysis and the maintenance of membrane potential. The gene encoding TMEM70 maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. |