TMEM70

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]

Description

transmembrane protein 70

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas), Transporters

Chromosome

8:q21.11 (73972437 - 73982783)

Ensembl ID

ENSG00000175606  (ver. 99.38)

Orthologs

Mouse Tmem70: ENSMUSG00000025940

UniProt

Q9BUB7

neXtProt

NX_Q9BUB7

Human splice variants
Mouse splice variants