NDUFA8

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NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa
Identifiers
Symbol(s) NDUFA8; CI-19KD; CI-PGIV; MGC793; PGIV
External IDs OMIM: 603359 MGI: 1915625 HomoloGene: 40932
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 4702 68375
Ensembl ENSG00000119421 ENSMUSG00000026895
Uniprot P51970 Q9DCJ5
Refseq NM_014222 (mRNA)
NP_055037 (protein)		 NM_026703 (mRNA)
NP_080979 (protein)
Location Chr 9: 123.95 - 123.96 Mb Chr 2: 35.86 - 35.87 Mb
Pubmed search [1] [2]

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa, also known as NDUFA8, is a human gene.[1]

The protein encoded by this gene belongs to the complex I 19 kDA subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.[1]

[edit] References

  1. ^ a b Entrez Gene: NDUFA8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa.

[edit] Further reading

  • Smeitink J, van den Heuvel L (1999). "Human mitochondrial complex I in health and disease.". Am. J. Hum. Genet. 64 (6): 1505–10. PMID 10330338. 
  • Sarto C, Marocchi A, Sanchez JC, et al. (1997). "Renal cell carcinoma and normal kidney protein expression.". Electrophoresis 18 (3-4): 599–604. doi:10.1002/elps.1150180343. PMID 9150947. 
  • Smeitink J, Loeffen J, Smeets R, et al. (1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I.". Hum. Genet. 103 (2): 245–50. PMID 9760212. 
  • Emahazion T, Beskow A, Gyllensten U, Brookes AJ (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.". Cytogenet. Cell Genet. 82 (1-2): 115–9. PMID 9763677. 
  • Triepels R, van den Heuvel L, Loeffen J, et al. (1999). "The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients.". Hum. Genet. 103 (5): 557–63. PMID 9860297. 
  • Loeffen JL, Triepels RH, van den Heuvel LP, et al. (1999). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.". Biochem. Biophys. Res. Commun. 253 (2): 415–22. doi:10.1006/bbrc.1998.9786. PMID 9878551. 
  • Bénit P, Chretien D, Kadhom N, et al. (2001). "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.". Am. J. Hum. Genet. 68 (6): 1344–52. PMID 11349233. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
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