NDUFA1

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa, also known as NDUFA1, is a human gene.cite web | title = Entrez Gene: NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4694| accessdate = ]

PBB_Summary
section_title =
summary_text = The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function.cite web | title = Entrez Gene: NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4694| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Smeitink J, van den Heuvel L |title=Human mitochondrial complex I in health and disease. |journal=Am. J. Hum. Genet. |volume=64 |issue= 6 |pages= 1505–10 |year= 1999 |pmid= 10330338 |doi=
*cite journal | author=Tretter L, Sipos I, Adam-Vizi V |title=Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease. |journal=Neurochem. Res. |volume=29 |issue= 3 |pages= 569–77 |year= 2004 |pmid= 15038604 |doi=
*cite journal | author=Zhuchenko O, Wehnert M, Bailey J, "et al." |title=Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. |journal=Genomics |volume=37 |issue= 3 |pages= 281–8 |year= 1997 |pmid= 8938439 |doi= 10.1006/geno.1996.0561
*cite journal | author=Frattini A, Faranda S, Bagnasco L, "et al." |title=Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25. |journal=Gene |volume=192 |issue= 2 |pages= 291–8 |year= 1997 |pmid= 9224902 |doi=
*cite journal | author=Loeffen JL, Triepels RH, van den Heuvel LP, "et al." |title=cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. |journal=Biochem. Biophys. Res. Commun. |volume=253 |issue= 2 |pages= 415–22 |year= 1999 |pmid= 9878551 |doi= 10.1006/bbrc.1998.9786
*cite journal | author=Au HC, Seo BB, Matsuno-Yagi A, "et al." |title=The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=96 |issue= 8 |pages= 4354–9 |year= 1999 |pmid= 10200266 |doi=
*cite journal | author=Yadava N, Potluri P, Smith EN, "et al." |title=Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I. |journal=J. Biol. Chem. |volume=277 |issue= 24 |pages= 21221–30 |year= 2002 |pmid= 11937507 |doi= 10.1074/jbc.M202016200
*cite journal | author=Man PY, Brown DT, Wehnert MS, "et al." |title=NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. |journal=Neurology |volume=58 |issue= 12 |pages= 1861–2 |year= 2002 |pmid= 12084895 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Mamelak AJ, Kowalski J, Murphy K, "et al." |title=Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. |journal=Exp. Dermatol. |volume=14 |issue= 5 |pages= 336–48 |year= 2005 |pmid= 15854127 |doi= 10.1111/j.0906-6705.2005.00278.x
*cite journal | author=Vogel RO, Dieteren CE, van den Heuvel LP, "et al." |title=Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. |journal=J. Biol. Chem. |volume=282 |issue= 10 |pages= 7582–90 |year= 2007 |pmid= 17209039 |doi= 10.1074/jbc.M609410200
*cite journal | author=Fernandez-Moreira D, Ugalde C, Smeets R, "et al." |title=X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. |journal=Ann. Neurol. |volume=61 |issue= 1 |pages= 73–83 |year= 2007 |pmid= 17262856 |doi= 10.1002/ana.21036

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