Plasma-membrane calcium pumps and hereditary deafness

Biochem Soc Trans. 2007 Nov;35(Pt 5):913-8. doi: 10.1042/BST0350913.

Abstract

In mammals, four different genes encode four PMCA (plasma-membrane Ca(2+)-ATPase) isoforms. PMCA1 and 4 are expressed ubiquitously, and PMCA2 and 3 are expressed predominantly in the central nervous system. More than 30 variants are generated by mechanisms of alternative splicing. The physiological meaning of the existence of so many isoforms is not clear, but evidently it must be related to the cell-specific demands of Ca(2+) homoeostasis. Recent studies suggest that the alternatively spliced regions in PMCA are responsible for specific targeting to plasma membrane domains, and proteins that bind specifically to the pumps could contribute to further regulation of Ca(2+) control. In addition, the combination of proteins obtained by alternative splicing occurring at two different sites could be responsible for different functional characteristics of the pumps.

Publication types

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

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Calcium-Transporting ATPases / chemistry
  • Calcium-Transporting ATPases / genetics
  • Calcium-Transporting ATPases / metabolism*
  • Cell Membrane / metabolism
  • Deafness / genetics
  • Deafness / metabolism*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / metabolism*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Protein Conformation
  • Sequence Homology, Amino Acid

Substances

  • Calcium-Transporting ATPases