Article
Plasma-membrane calcium pumps and hereditary deafness.
Biochemical Society transactions - 1 Nov 2007
Brini M, Di Leva F, Domi T, Fedrizzi L, Lim D, Carafoli E
Abstract excerpt
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...
Topics
- Alternative Splicing
- Amino Acid Sequence
- Calcium-Transporting ATPases
- Cell Membrane
- Deafness
- Genetic Diseases, Inborn
- Humans
- Molecular Sequence Data
- Mutation
- Protein Conformation
- Sequence Homology, Amino Acid