Gene: TMEM70
Alternate names for this Gene: MC5DN2
Gene Summary: 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.
Gene is located in Chromosome: 8
Location in Chromosome : 8q21.11
Description of this Gene: transmembrane protein 70
Type of Gene: protein-coding
rs183973249 in
TMEM70 gene and
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
PMID 20937241 2011 Expression and processing of the TMEM70 protein.
PMID 22433607 2012 Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
PMID 26550569 2015 ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
PMID 21815885 2011 Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
rs796052056 in
TMEM70 gene and
Isolated ATP synthase deficiency
PMID 25326274 2015 TMEM70 deficiency: long-term outcome of 48 patients.
PMID 20335238 2010 Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
PMID 20920610 2011 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
rs796052056 in
TMEM70 gene and
Severe intellectual disability
PMID 18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
PMID 21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
PMID 24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.