Transmembrane Protein 70 (TMM70) Kits ELISA

TMM70 likely encodes a mitochondrial membrane protein. De plus, nous expédions Transmembrane Protein 70 Anticorps (40) et Transmembrane Protein 70 Protéines (3) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
Anti-Humain TMM70 TMM70 54968 Q9BUB7
Anti-Souris TMM70 TMM70 70397 Q921N7
Anti-Rat TMM70 TMM70 500384  
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Plus Kits ELISA pour Transmembrane Protein 70 partenaires d'interaction

Human Transmembrane Protein 70 (TMM70) interaction partners

  1. Chinese family with dual LQT1 (Montrer KCNQ1 Kits ELISA) and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1 (Montrer KCNQ1 Kits ELISA), MYH7 (Montrer MYH7 Kits ELISA), MYLK2 (Montrer MYLK2 Kits ELISA), and TMEM70 mutations.

  2. In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.

  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.

  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

  5. These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s).

  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.

  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.

  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.

  9. TMEM70 mutations are involved in the pathogenesis of 3-methylglutaconic acid (3-MGA (Montrer AGLU Kits ELISA)) acydoses in populations of different ethnic origin and become a useful genetic marker for this disease.

  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.

Transmembrane Protein 70 (TMM70) profil antigène

Antigen 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 names and symbols associated with TMM70

  • transmembrane protein 70 (TMEM70) anticorps
  • transmembrane protein 70 (Tmem70) anticorps
  • 1110020A09Rik anticorps
  • 2210416J16Rik anticorps
  • MC5DN2 anticorps
  • RGD1566224 anticorps

Protein level used designations for TMM70

transmembrane protein 70, mitochondrial

54968 Homo sapiens
70397 Mus musculus
500384 Rattus norvegicus
613774 Bos taurus
420188 Gallus gallus
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