Recombinant Human Transmembrane protein 70, mitochondrial (TMEM70)

1. Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations. PMID: 25825456
2. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment. PMID: 26550569
3. 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. PMID: 25326274
4. 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 PMID: 24485043
5. These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s). PMID: 24576557
6. 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. PMID: 22986587
7. 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. PMID: 22433607
8. 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. PMID: 21945727
9. 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. PMID: 21815885
10. 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. PMID: 21147908
11. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. PMID: 20920610
12. 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. PMID: 20937241
13. ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of ill neonates with early onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria. PMID: 20335238
14. TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes. PMID: 18953340
15. Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of hypertrophic cardiomyopathy and encephalopathy. PMID: 19103153

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HGNC: 26050

OMIM: 612418

KEGG: hsa:54968

STRING: 9606.ENSP00000312599

UniGene: Hs.106650