TMEM70 Antibody – Rabbit Polyclonal

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]

TMEM70: Involved in biogenesis of mitochondrial ATP synthase. Defects in TMEM70 are a cause of 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. Belongs to the TMEM70 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 8q21.11

Cellular Component: nucleoplasm; mitochondrion; mitochondrial inner membrane

Biological Process: mitochondrial proton-transporting ATP synthase complex assembly

Disease: Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 2