Property Summary

NCBI Gene PubMed Count 1
Grant Count 25
R01 Count 14
Funding $2,121,788.2
PubMed Score 585.62
PubTator Score 289.17

Knowledge Summary

Patent

No data available

Expression

Gene RIF (24)

PMID Text
24061460 Protein modeling revealed loss of function mutations of ND6 and COX-II proteins in malignant vs benign tumors
23674761 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.
22947169 Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency.
22879518 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.
20809775 These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population
20691156 These data suggested that the ND6 T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees.
20052369 the G14459A mutation is a candidate mutation for maternally inherited dystonia
20019223 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
19758471 Observational study of gene-disease association. (HuGE Navigator)
19732751 Molecular analysis has led to identification of the known T14502C mutation in ND6 gene in Chinese families with Leber's hereditary optic neuropathy.
More...

AA Sequence

MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYLGGMMVVFGYT      1 - 70
TAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNSVGSWMIYEGEGSGLIREDPI     71 - 140
GAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN                                        141 - 174
//

Text Mined References (19)

PMID Year Title
24061460 Mitochondria and tumors: a new perspective.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
14595656 2003 Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
11781695 2001 An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
More...