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In a 16-year-old boy, born of unrelated German parents, with combined oxidative phosphorylation deficiency-29 (COXPD29; 616811 ), Holzerova et al. (2016) identified a homozygous truncating mutation in the TXN2 gene (W24X; 609063.0001 ). The mutation was found by whole-exome sequencing and segregated with the disorder in the family.

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TXN2 INFORMATION. Proteini. Full gene name according to HGNC. Thioredoxin 2. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. TXN2 (MT-TRX) Protein classi. Assigned HPA protein class (es) for the encoded protein (s). Thioredoxin, mitochondrial also known as thioredoxin-2 is a protein that in humans is encoded by the TXN2 gene on chromosome 22. This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against ...KARL (ts4.travian.ru). *удален* (17.12.19) Зарегистрирован: 10.12.19: Удаление: 17.12.19Instagram:https://instagram. skylightpaycard.cardyork county incident reportriot games software engineer salaryhigh speed engineering We would like to show you a description here but the site won’t allow us. nes report outage4906 gibbon rd charlotte nc 28269 The mitochondrial form of thioredoxin, thioredoxin 2 (Txn2), plays an important role in redox control and protection against ROS-induced mitochondrial damage. To evaluate the effect of reduced levels of Txn2 in vivo, we measured oxidative damage and mitochondrial function using mice heterozygous for … terre haute mugshots busted newspaper 13 Sept 2020 ... Concomitantly, the levels of cellular ROS, apoptosis-related proteins and cell viability were altered by TXN2 silencing or over-expression. In ...『人は見た目！と言うけれど』刊行記念 外川浩子さん×太田尚樹さんトークイベント. 神保町ブックセンターでは2019年より、様々な立場の当事者や支援者、専門家をお招きし、多用な人々が共に暮らせる社会実現のため参加者とともに考えるトークイベント【本の街で、こころの目線を合わせる ...