Journal article
The mouse stargazer gene encodes a neuronal Ca2+-channel γ subunit
Nature genetics, Vol.19(4), pp.340-347
08/1998
DOI: 10.1038/1228
PMID: 9697694
Abstract
Stargazer mice have spike-wave seizures characteristic of absence epilepsy, with accompanying defects in the cerebellum and inner ear. We describe here a novel gene, Cacng2, whose expression is disrupted in two stargazer alleles. It encodes a 36-kD protein (stargazin) with structural similarity to the γ subunit of skeletal muscle voltage-gated calcium (Ca2+) channels. Stargazin is brain-specific and, like other neuronal Ca2+-channel subunits, is enriched in synaptic plasma membranes. In vitro, stargazin increases steady-state inactivation of α1 class A Ca2+ channels. The anticipated effect in stargazer mutants, inappropriate Ca2+ entry, may contribute to their more pronounced seizure phenotype compared with other mouse absence models with Ca2+-channel defects. The discovery that the stargazer gene encodes a γ subunit completes the identification of the major subunit types for neuronal Ca2+ channels, namely α1, α2δ, β and γ, providing a new opportunity to understand how these channels function in the mammalian brain and how they may be targeted in the treatment of neuroexcitability disorders.
Details
- Title: Subtitle
- The mouse stargazer gene encodes a neuronal Ca2+-channel γ subunit
- Creators
- Verity A LettsRicardo FelixGloria H BiddlecomeJyothi ArikkathConnie L MahaffeyAlicia ValenzuelaFrederick S BartlettYasuo MoriKevin P CampbellWayne N Frankel
- Resource Type
- Journal article
- Publication Details
- Nature genetics, Vol.19(4), pp.340-347
- DOI
- 10.1038/1228
- PMID
- 9697694
- ISSN
- 1061-4036
- eISSN
- 1546-1718
- Language
- English
- Date published
- 08/1998
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020623902771
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