NADH-ubiquinone oxidoreductase chain 6

UniProt P03923 Organism Homo sapiens Gene MT-ND6, MTND6, NADH6, ND6 EC 7.1.1.2

Also known as: MT-ND6, MTND6, NADH6, ND6

Function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor. Essential for the catalytic activity and assembly of complex I.

Classification

Family (Pfam): PF00499 Oxidored_q3
InterPro: ComplexI_Subunit6, NADH_UbQ/plastoQ_OxRdtase_su6
Functional cluster: Cytochrome b & NADH Dehydrogenase Subunits

Experimental structures · PDB · 5

5XTC EM 3.70A
5XTD EM 3.70A
9CWT EM 3.44A
9I4I EM 2.63A
9TI4 EM 2.66A

A predicted model is available from AlphaFold.

Gene Ontology · 8

Disease associations

Leigh syndrome MONDO:0009723
Leber optic atrophy and dystonia MONDO:0010772
Leber hereditary optic neuropathy MONDO:0010788
MELAS syndrome MONDO:0010789

Drugs targeting this protein · 2

METFORMIN HYDROCHLORIDE inhibitor
ME-344 inhibitor

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

NADH-ubiquinone oxidoreductase chain 4 8 shared papers
NADH-ubiquinone oxidoreductase chain 1 7 shared papers
ATP synthase F(0) complex subunit 8 6 shared papers
NADH-ubiquinone oxidoreductase chain 4L 6 shared papers
NADH-ubiquinone oxidoreductase chain 3 6 shared papers
Cytochrome c oxidase subunit 1 6 shared papers
ATP synthase F(0) complex subunit a 6 shared papers
NADH-ubiquinone oxidoreductase chain 2 6 shared papers
NADH-ubiquinone oxidoreductase chain 5 6 shared papers
Cytochrome c oxidase subunit 2 6 shared papers
Cytochrome b 3 shared papers
Cytochrome c oxidase subunit 3 2 shared papers

Literature · 18 cited papers

Leber's hereditary optic neuropathy (LHON)-associated ND6 14 484 T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy. Hum. Mol. Genet. · 2022
Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int. J. Legal Med. · 2004
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann. Neurol. · 2003
Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. Mol. Biol. Evol. · 2003
Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. Genome Res. · 2003
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur. J. Hum. Genet. · 2001
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain · 2001
Mitochondrial genome variation and the origin of modern humans. Nature · 2000
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. Graefes Arch. Clin. Exp. Ophthalmol. · 1999
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. Hum. Mutat. Suppl. · 1998
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Ger. J. Ophthalmol. · 1996
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am. J. Hum. Genet. · 1996
… and 6 more in the literature graph

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