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]

Full Name

TMEM70 Transmembrane Protein 70

Function

Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F1F0 ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC1 through its interaction (PubMed:31652072, PubMed:33753518, PubMed:33359711, PubMed:32275929).
Therefore, participates in the early stage of mitochondrial ATP synthase biogenesis and also protects subunit c/ATP5MC1 against intramitochondrial proteolysis (PubMed:33359711, PubMed:18953340, PubMed:20937241, PubMed:31652072).
In addition, binds the mitochondrial proton-transporting ATP synthase complexes I and may play a role in the stability of its membrane-bound subassemblies (PubMed:32275929).

Biological Process

Biological Process mitochondrial proton-transporting ATP synthase complex assemblySource:UniProtKB5 Publications
Biological Process protein complex oligomerizationSource:UniProtKB1 Publication
Biological Process protein homooligomerizationSource:UniProtKB1 Publication

Cellular Location

Mitochondrion inner membrane
Mostly located within the inner cristae membrane.

Involvement in disease

Mitochondrial complex V deficiency, nuclear type 2 (MC5DN2):
A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

Topology

Mitochondrial matrix: 82-102
Helical: 103-123
Mitochondrial intermembrane: 124-141
Helical: 142-162
Mitochondrial matrix: 163-260