Recombinant Human NADH-ubiquinone oxidoreductase chain 6 (MT-ND6)

1. Study identify a significant down-expression of MT-ND6 in men with Klinefelter syndrome. PMID: 29333085
2. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother PMID: 28944608
3. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics PMID: 29133631
4. Liver MT-ND6 transcriptional activity and protein expression were decreased in nonalcoholic steatohepatitis, suggesting that the expression of this mitochondrial gene may play an important role in the disease progression. PMID: 22879518
5. This study shows that m.14484T>C arose independently in a different mtDNA haplogroup and ethnic background in India, which may influence the clinical expression of the disease. PMID: 23674761
6. These data suggested that the ND6 T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees. PMID: 20691156
7. the G14459A mutation is a candidate mutation for maternally inherited dystonia PMID: 20052369
8. novel mitochondrial DNA nucleotide transversion, C14482A (M64I) was found to cause Leber's hereditary optic neuropathy with visual recovery PMID: 12112086
9. mitochondrial ND6 may have a role in Leber's hereditary optic neuropathy PMID: 15922297
10. Free radicals-mediated damage was studied in transmitochondrial cells harboring T14487C mutation in the ND6 gene of mtDNA. PMID: 16337195
11. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. PMID: 17452034
12. T14484C and T14502C in ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. PMID: 18440284
13. Molecular analysis has led to identification of the known T14502C mutation in ND6 gene in Chinese families with Leber's hereditary optic neuropathy. PMID: 19732751
14. missense mutation 14487T>C resulted in severe encephalopathies ranging from infantile Leigh syndrome to adult-onset progressive myoclonic epilepsy with dystonia in a five-generation family PMID: 20019223

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HGNC: 7462

OMIM: 252010

KEGG: hsa:4541

STRING: 9606.ENSP00000354665