Property Summary

NCBI Gene PubMed Count 24
PubMed Score 24.89
PubTator Score 32.59

Knowledge Summary


No data available


  Differential Expression (14)

Disease log2 FC p
Multiple myeloma 1.628 0.004
astrocytic glioma -1.800 0.005
ependymoma -1.600 0.016
oligodendroglioma -1.400 0.021
osteosarcoma 1.122 0.000
medulloblastoma -1.100 0.000
hereditary spastic paraplegia -1.661 0.008
acute quadriplegic myopathy -1.300 0.004
pancreatic ductal adenocarcinoma liver m... -1.792 0.021
non primary Sjogren syndrome sicca 1.200 0.022
Pick disease -1.300 0.000
Breast cancer 1.200 0.000
invasive ductal carcinoma 1.100 0.012
ovarian cancer 1.700 0.007


Accession Q9BUB7 E9PDY9 Q9NWY5
Symbols MC5DN2


  Ortholog (11)

Gene RIF (19)

26550569 In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
25326274 TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood.
24576557 These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s).
24485043 Pulmonary hypertension has rarely been reported in mitochondrial disorders and, so far, it has been described in association with TMEM70 deficiency only in one patient
22986587 this study suggests that mutant TMEM70 associates in high molecular weight complexes (470-550 kDa) when expressed in Hela cells and exerts a direct action in ATP synthase biogenesis and assembly, mediating the incorporation of F1 moieties.
22433607 Fibroblasts from 10 patients with TMEM70 317-2A>G homozygous mutation showed a significant 82-89% decrease of ATP synthase and 50-162% increase of respiratory chain complex IV and 22-53% increase of complex III.
21945727 The authors report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion.
21815885 TMEM70 mutations are involved in the pathogenesis of 3-methylglutaconic acid (3-MGA) acydoses in populations of different ethnic origin and become a useful genetic marker for this disease.
21147908 The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency.
20937241 No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-single nucleotide polymorphism mutation.

AA Sequence


Text Mined References (27)

PMID Year Title
26550569 2015 ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25326274 2015 TMEM70 deficiency: long-term outcome of 48 patients.
24576557 2014 Mitochondrial membrane assembly of TMEM70 protein.
24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
22986587 2012 TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
22433607 2012 Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
21945727 2011 Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
21815885 2011 Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
21269460 2011 Initial characterization of the human central proteome.