Copper chaperones for cytochrome c oxidase and human disease

J Bioenerg Biomembr. 2002 Oct;34(5):381-8. doi: 10.1023/a:1021254104012.

Abstract

Biological processes in living cells are compartmentalized between lipid membranes. Integral membrane proteins often confer specific functions to these compartments and as such have a critical role in cellular metabolism and function. Cytochrome c oxidase is a macromolecular metalloprotein complex essential for the respiratory function of the cell. Elucidating the mechanisms of assembly of cytochrome c oxidase within the inner mitochondrial membrane represents a unique challenge for understanding metalloprotein biosynthesis. Elegant genetic experiments in yeast have defined several proteins required for copper delivery to cytochrome c oxidase. While the precise role of each of these proteins in copper incorporation remains unclear, recent studies have revealed that inherited mutations in two of these proteins can result in severe pathology in human infants in association with cytochrome c oxidase deficiency. Characterization of the molecular pathogenesis of these disorders offers new insights into the mechanisms of cellular copper metabolism and the role of these cytochrome c oxidase copper chaperones in human disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Binding Sites
  • Carrier Proteins
  • Cation Transport Proteins / metabolism
  • Copper / metabolism*
  • Copper Transport Proteins
  • Disease*
  • Electron Transport Chain Complex Proteins
  • Electron Transport Complex IV / chemistry
  • Electron Transport Complex IV / metabolism*
  • Humans
  • Kinetics
  • Membrane Proteins / metabolism
  • Mitochondrial Proteins
  • Molecular Chaperones / metabolism*
  • Saccharomyces cerevisiae Proteins*

Substances

  • COX11 protein, S cerevisiae
  • COX11 protein, human
  • COX17 protein, S cerevisiae
  • COX17 protein, human
  • Carrier Proteins
  • Cation Transport Proteins
  • Copper Transport Proteins
  • Electron Transport Chain Complex Proteins
  • Membrane Proteins
  • Mitochondrial Proteins
  • Molecular Chaperones
  • Saccharomyces cerevisiae Proteins
  • Copper
  • Electron Transport Complex IV