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ND6 NADH dehydrogenase subunit 6 [ Homo sapiens neanderthalensis (Neandertal) ]

Gene ID: 6775063, updated on 18-Aug-2023

Summary

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Gene symbol
ND6
Gene description
NADH dehydrogenase subunit 6
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens neanderthalensis (common: Neandertal, sub-species: neanderthalensis)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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Sequence:
Chromosome: MT; NC_011137.1 (14144..14668, complement)

Chromosome MT - NC_011137.1Genomic Context describing neighboring genes Neighboring gene tRNA-Leu Neighboring gene NADH dehydrogenase subunit 5 Neighboring gene tRNA-Glu Neighboring gene cytochrome b

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_011137.1

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Chen D, et al. Mol Genet Genomic Med, 2020 May. PMID 32162843, Free PMC Article
  2. Progressive Bilateral Cecocentral Scotomata. Abalem MF, et al. JAMA Ophthalmol, 2019 Jan 1. PMID 30347014
  3. Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma. Yuan Y, et al. BMC Cancer, 2015 May 2. PMID 25934296, Free PMC Article
  4. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation]. Meng X, et al. Yi Chuan, 2014 Apr. PMID 24846978
  5. Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy. Liang M, et al. Invest Ophthalmol Vis Sci, 2014 Mar 6. PMID 24398099

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency.
    Title: Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency.
  2. Leber hereditary optic neuropathy caused by homoplasmic variant in ND6
    Title: Progressive Bilateral Cecocentral Scotomata.
  3. Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency.
    Title: Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
  4. Compound mtDNA mutations of m.3635G > A and m.14502T > C presented with low penetration, and the patients with these compound mutations exhibited mild visual impairment.
    Title: Leber's Hereditary Optic Neuropathy is Associated with Compound Primary Mutations of Mitochondrial ND1 m.3635G > A and ND6 m.14502 T > C.
  5. ND6 gene nonsense and missense mutations might promote cell migration and invasion in lung adenocarcinoma.
    Title: Nonsense and missense mutation of mitochondrial ND6 gene promotes cell migration and invasion in human lung adenocarcinoma.
  6. role of mitochondrial haplogroups on the expression of LHON for the people carrying the m.14484T>C mutation
    Title: [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].
  7. ND6 gene is the hot spot for mutations associated with LHON. Thus, our findings may provide valuable information for the further understanding of pathophysiology and management of LHON.
    Title: Frequency and spectrum of mitochondrial ND6 mutations in 1218 Han Chinese subjects with Leber's hereditary optic neuropathy.
  8. Mitochondrial ND6 mutation is associated with severe infantile leigh syndrome.
    Title: Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.
  9. Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
    Title: Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR.
  10. Leber's hereditary optic neuropathy may be maternally inherited in Chinese families carrying a single nucleotide polymorphism
    Title: Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation.
Submit: New GeneRIF Correction See all GeneRIFs (15)

General protein information

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Preferred Names
NADH dehydrogenase subunit 6

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

  1. NC_011137.1 Reference assembly

    Range
    14144..14668 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. YP_002124313.1 NADH dehydrogenase subunit 6 (mitochondrion) [Homo sapiens neanderthalensis]

    See identical proteins and their annotated locations for YP_002124313.1

    Status: REVIEWED

    UniProtKB/TrEMBL
    B2XHG7, B4F446, B9EEZ1, Q9B0M9
    Conserved Domains (1) summary
    MTH00109
    Location:1 → 174
    ND6; NADH dehydrogenase subunit 6; Provisional
Nucleotide Protein
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