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Gene Review

NDUFA1  -  NADH dehydrogenase (ubiquinone) 1 alpha...

Homo sapiens

Synonyms: CI-MWFE, Complex I-MWFE, MWFE, NADH-ubiquinone oxidoreductase MWFE subunit, ZNF183
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Disease relevance of NDUFA1


High impact information on NDUFA1

  • The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria [5].
  • The NDUFA1 gene encoding the MWFE polypeptide is located on the X chromosome [5].
  • RESULTS: Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively [3].
  • Using a unique animal model of severe complex I deficiency induced by ribozymes targeted against a critical complex I subunit gene (NDUFA1), we attempted rescue of the optic nerve degeneration associated with Leber hereditary optic neuropathy [6].
  • We developed a conditional complex I assembly system in a Chinese hamster fibroblast mutant line, CCL16-B2, that does not express the NDUFA1 gene (encoding the MWFE protein) [7].

Biological context of NDUFA1

  • The NDUFA1 gene is composed of 3 exons and spans about 5.0 kb of genomic DNA [8].
  • The NDUFA1 cDNA clone and associated genomic cosmid clones were isolated by reciprocal probing of an arrayed human heart cDNA library with a X-chromosome cosmid library and were mapped to Xq24 [8].
  • This revealed that three nDNA complex I genes (NDUFC2, NDUFA1, and NDUFA4) had significantly increased amino acid substitution rates by both PAML and Z-test, suggesting that they have been subjected to adaptive selection during primate radiation [9].
  • Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain [10].
  • Our results suggest that mutations in NDUFA1 do not cause the gender difference observed in clinically severe and complex phenotypes with complex I deficiency [10].

Anatomical context of NDUFA1

  • Two smaller Complex I phosphoproteins, ESSS and MWFE, and their sites of modification, have since been determined [Chen et al. (2004) The phosphorylation of subunits of complex I from bovine heart mitochondria. J. Biol. Chem. 279, 26036] [11].
  • The MWFE subunit of the mitochondrial NADH-ubiquinone oxidoreductase (complex I) is a small, essential membrane protein of 70 amino acids that is made in the cytosol, imported into mitochondria, and assembled without further proteolytic processing [12].
  • A cell line has been constructed in which the MWFE subunit is conditionally expressed, opening a window on the kinetics of assembly of complex I. Its targeting, import into mitochondria, and orientation in the inner membrane have also been investigated [13].

Analytical, diagnostic and therapeutic context of NDUFA1


  1. Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. Mamelak, A.J., Kowalski, J., Murphy, K., Yadava, N., Zahurak, M., Kouba, D.J., Howell, B.G., Tzu, J., Cummins, D.L., Liégeois, N.J., Berg, K., Sauder, D.N. Exp. Dermatol. (2005) [Pubmed]
  2. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Man, P.Y., Brown, D.T., Wehnert, M.S., Zeviani, M., Carrara, F., Turnbull, D.M., Chinnery, P.F. Neurology (2002) [Pubmed]
  3. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Fernandez-Moreira, D., Ugalde, C., Smeets, R., Rodenburg, R.J., Lopez-Laso, E., Ruiz-Falco, M.L., Briones, P., Martin, M.A., Smeitink, J.A., Arenas, J. Ann. Neurol. (2007) [Pubmed]
  4. Suppression of complex I gene expression induces optic neuropathy. Qi, X., Lewin, A.S., Hauswirth, W.W., Guy, J. Ann. Neurol. (2003) [Pubmed]
  5. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. Au, H.C., Seo, B.B., Matsuno-Yagi, A., Yagi, T., Scheffler, I.E. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  6. SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. Qi, X., Lewin, A.S., Sun, L., Hauswirth, W.W., Guy, J. Ann. Neurol. (2004) [Pubmed]
  7. Development and characterization of a conditional mitochondrial complex I assembly system. Yadava, N., Houchens, T., Potluri, P., Scheffler, I.E. J. Biol. Chem. (2004) [Pubmed]
  8. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. Zhuchenko, O., Wehnert, M., Bailey, J., Sun, Z.S., Lee, C.C. Genomics (1996) [Pubmed]
  9. Adaptive selection of mitochondrial complex I subunits during primate radiation. Mishmar, D., Ruiz-Pesini, E., Mondragon-Palomino, M., Procaccio, V., Gaut, B., Wallace, D.C. Gene (2006) [Pubmed]
  10. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. Wittig, I., Augstein, P., Brown, G.K., Fujii, T., Rötig, A., Rustin, P., Munnich, A., Seibel, P., Thorburn, D., Wissinger, B., Tamboom, K., Metspalu, A., Lamantea, E., Zeviani, M., Wehnert, M.S. J. Inherit. Metab. Dis. (2001) [Pubmed]
  11. Mass spectrometric identification of a novel phosphorylation site in subunit NDUFA10 of bovine mitochondrial complex I. Schilling, B., Aggeler, R., Schulenberg, B., Murray, J., Row, R.H., Capaldi, R.A., Gibson, B.W. FEBS Lett. (2005) [Pubmed]
  12. Import and orientation of the MWFE protein in mitochondrial NADH-ubiquinone oxidoreductase. Yadava, N., Scheffler, I.E. Mitochondrion (2004) [Pubmed]
  13. Molecular genetics of complex I-deficient Chinese hamster cell lines. Scheffler, I.E., Yadava, N., Potluri, P. Biochim. Biophys. Acta (2004) [Pubmed]
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