MT-ND6 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 6 protein (ND6). [5] The ND6 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. [6]

2024年12月25日 · MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6) is a Protein Coding gene. Diseases associated with MT-ND6 include Leber Hereditary Optic Neuropathy, Modifier Of and Leber Optic Atrophy And Dystonia. Among its related pathways are Complex I biogenesis and Respiratory electron transport.

2025年2月8日 · Clinical resource with information about MT-ND6, Leber optic atrophy, MELAS syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

启用 NADH 脱氢酶 (泛醌) 活性。 参与线粒体电子传递、NADH 到泛醌和线粒体呼吸链复合体 I 的组装。 预测位于线粒体内膜。 与 Leber 遗传性视神经病变有关；利氏病；下肢为主的脊髓性肌萎缩症 2B。 [由基因组资源联盟提供，2022 年 4 月] Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly.

Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation. Reduced mitochondrial-encoded NADH dehydrogenase 6 gene expression drives inflammatory CD4[+]T cells in patients with systemic lupus erythematosus.

Each of the MT-ND6 gene variants changes a single protein building block (amino acid) in the NADH dehydrogenase 6 protein. One common MT-ND6 gene variant is responsible for about 14 percent of all cases of Leber hereditary optic neuropathy, and it is the most common cause of this disorder among people of French Canadian descent. This genetic ...

2025年1月4日 · Title: Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation. Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.

Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Is expressed in brain; early conceptus; and secondary oocyte. Used to study Leber hereditary optic neuropathy and lactic acidosis.

promotes GC progression by regulating mitochondrial respiratory function through the FASTK/MT-ND6 axis. Key words: Gastric cancer; Lnc-BM; FASTK; Mitochondrion Funding: National Natural Science Foundation of China (No. 82273157, 82073114, 81773383)

2021年6月18日 · mt-nd6作为新靶点在代谢综合征诊断和治疗药物中的应用，其机理为：mt-nd6基因能够调控线粒体功能、维持线粒体稳态，在制备改善线粒体功能失常相关疾病的药物中具有良好应用前景。