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Gene Review

NDUFS8  -  NADH dehydrogenase (ubiquinone) Fe-S...

Homo sapiens

Synonyms: CI-23k, CI-23kD, CI23KD, Complex I-23kD, NADH-ubiquinone oxidoreductase 23 kDa subunit, ...
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Disease relevance of NDUFS8

  • Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome [1].

High impact information on NDUFS8

  • The nuclear-encoded NDUFS8 (TYKY) subunit of complex I is highly conserved among eukaryotes and prokaryotes and contains two 4Fe4S ferredoxin consensus patterns, which have long been thought to provide the binding site for the iron-sulfur cluster N-2 [1].
  • The NDUFS8 cDNA contains an open reading frame of 633 bp, coding for 210 amino acids [1].
  • Two novel substitutions were found: a synonymous replacement 201A>T in NDUFV2 and a non-synonymous base exchange 52C>T in NDUFS8 [2].
  • Bioinformatic analyses suggested that Arg18Cys could lead to marked changes in the physicochemical properties of the mitochondrial-targeting peptide of TYKY, but we could not see changes in the assembly or activity of complex I or in the transcription of NDUFS8 in the fibroblasts of our patient [2].
  • The NDUFS8 gene is located on chromosome 11q13 immediately downstream of the ALDH7 isoform gene [3].

Biological context of NDUFS8

  • Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene [4].
  • The structural organization of the NDUFS8 gene coding for the TYKY subunit of the human mitochondrial NADH:ubiquinone oxidoreductase (Complex I) has been determined by sequencing of a genomic fragment cloned from a cosmid library [3].

Anatomical context of NDUFS8


Regulatory relationships of NDUFS8


Analytical, diagnostic and therapeutic context of NDUFS8

  • Western blot analysis revealed a deficiency in the NDUFS8 polypeptide, but also reductions in other nuclear subunits of complex I, suggesting that this subunit is essential for either the assembly or stability of complex I [4].


  1. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R., van den Heuvel, L. Am. J. Hum. Genet. (1998) [Pubmed]
  2. Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy. Hinttala, R., Uusimaa, J., Remes, A.M., Rantala, H., Hassinen, I.E., Majamaa, K. J. Mol. Med. (2005) [Pubmed]
  3. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. de Sury, R., Martinez, P., Procaccio, V., Lunardi, J., Issartel, J.P. Gene (1998) [Pubmed]
  4. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Procaccio, V., Wallace, D.C. Neurology (2004) [Pubmed]
  5. YY1 and Sp1 activate transcription of the human NDUFS8 gene encoding the mitochondrial complex I TYKY subunit. Lescuyer, P., Martinez, P., Lunardi, J. Biochim. Biophys. Acta (2002) [Pubmed]
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