Cox6a1

Summary

Gene Symbol: Cox6a1
Description: cytochrome c oxidase subunit VIa polypeptide 1
Alias: VIaL, cytochrome c oxidase subunit 6A1, mitochondrial, cytochrome c oxidase polypeptide VIa-liver, subunit VIaL (liver-type)
Species: mouse
Products:     Cox6a1

Top Publications

  1. Grossman L, Rosenthal N, Akamatsu M, Erickson R. Cloning, sequence analysis, and expression of a mouse cDNA encoding cytochrome c oxidase subunit VIa liver isoform. Biochim Biophys Acta. 1995;1260:361-4 pubmed
    ..Northern analysis shows the expression of COX6aL is developmentally regulated in heart, being about equally transcribed with the heart isoform (COX6aH) in 18-day embryos but consisting of less than 25% in adult heart. ..
  2. Schmidt T, Jaradat S, Goodman M, Lomax M, Grossman L. Molecular evolution of cytochrome c oxidase: rate variation among subunit VIa isoforms. Mol Biol Evol. 1997;14:595-601 pubmed
    ..This is expected for relaxed selective constraints after gene duplication followed by purifying selection to preserve the replacements with tissue-specific functions. ..
  3. Guerra C, Koza R, Walsh K, Kurtz D, Wood P, Kozak L. Abnormal nonshivering thermogenesis in mice with inherited defects of fatty acid oxidation. J Clin Invest. 1998;102:1724-31 pubmed
    ..From a clinical perspective, it is important to determine whether defects in thermogenesis may be a phenotype in human neonates with inherited deficiencies in fatty acid beta-oxidation. ..
  4. Huttemann M, Arnold S, Lee I, Mühlenbein N, Linder D, Lottspeich F, et al. Turkey cytochrome c oxidase contains subunit VIa of the liver type associated with low efficiency of energy transduction. Eur J Biochem. 2000;267:2098-104 pubmed
    ..tissues and internal sequences from the skeletal muscle enzyme show homology to the mammalian liver-type subunit VIaL, which was verified by isolation and sequencing of the cDNA of turkey subunit VIa...
  5. Giesen K, Plum L, Kluge R, Ortlepp J, Joost H. Diet-dependent obesity and hypercholesterolemia in the New Zealand obese mouse: identification of a quantitative trait locus for elevated serum cholesterol on the distal mouse chromosome 5. Biochem Biophys Res Commun. 2003;304:812-7 pubmed
    ..The effect of Chol1/NZO was independent of the dietary fat content and was not associated with the other traits of the metabolic syndrome. Thus, it is suggested that the responsible gene might be involved in cholesterol metabolism. ..
  6. Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, et al. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am J Hum Genet. 2014;95:294-300 pubmed publisher
    ..pyrimidine tract) of intron 2 adjacent to the third exon of cytochrome c oxidase subunit VIa polypeptide 1 (COX6A1), which is a component of mitochondrial respiratory complex IV (cytochrome c oxidase [COX]), within the autozygous ..
  7. Boczonadi V, Giunta M, Lane M, Tulinius M, Schara U, Horvath R. Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease. Int J Biochem Cell Biol. 2015;63:32-40 pubmed publisher
    ..This article is part of a Directed Issue entitled: Energy Metabolism Disorders and Therapies. ..
  8. Doucet Beaupré H, Gilbert C, Profes M, Chabrat A, Pacelli C, Giguère N, et al. Lmx1a and Lmx1b regulate mitochondrial functions and survival of adult midbrain dopaminergic neurons. Proc Natl Acad Sci U S A. 2016;113:E4387-96 pubmed publisher
    ..These results reveal the key role of these transcription factors beyond the early developmental stages and provide mechanistic links between mitochondrial dysfunctions, ?-synuclein aggregation, and the survival of dopaminergic neurons. ..