Article
Characterization of the deafwaddler mutant of the rat plasma membrane calcium-ATPase 2.
Hearing research - 1 Dec 2001
Penheiter A R, Filoteo A G, Croy C L, Penniston J T
Abstract excerpt
The deafwaddler mutant in mice was the first spontaneous mutant discovered in the plasma membrane Ca(2+) pump (PMCA) [Street, V.A. et al., 1998, Nat. Genet. 19, 390-394]. A nucleotide substitution in deafwaddler results in a Gly to Ser transition at amino acid 283 in the small cytoplasmic loop of PMCA isoform 2 (PMCA2). PMCA2 is abundant in the stereocilia of auditory and vestibular hair cells, neurons of the...
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