| First Author | Letts VA | Year | 1998 |
| Journal | Nat Genet | Volume | 19 |
| Issue | 4 | Pages | 340-7 |
| PubMed ID | 9697694 | Mgi Jnum | J:48966 |
| Mgi Id | MGI:1276269 | Doi | 10.1038/1228 |
| Citation | Letts VA, et al. (1998) The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit [see comments]. Nat Genet 19(4):340-7 |
| abstractText | 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 gamma-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 alpha(1) 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 gamma-subunit completes the identification of the major subunit types for neuronal Ca2+ channels, namely alpha(1) alpha(2)delta,beta and gamma, 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. |
