Channelpedia

Learning from stargazin: the mouse, the phenotype and the unexpected.


Authors: Pavel Osten, Yael Stern-Bach

Journal, date & volume: Curr. Opin. Neurobiol., 2006 Jun , 16, 275-80

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16678401

Channelpedia reference in: cacng1

Abstract
The stargazin gene (also referred to as Cacng2) has been identified by forward genetics in a spontaneous mouse mutant with ataxic gait, upward head-elevating movements (hence the name stargazer for the mouse) and episodes of spike-wave discharges. Stargazin is related to the gamma-1 subunit of skeletal muscle voltage-dependent calcium channel (VDCC), and a deficit in its role as auxiliary VDCC subunit was proposed to underlie the epileptic phenotype of the mouse; yet, a conclusive demonstration of stargazin function in VDCC regulation is still lacking. In contrast, stargazin and its three closely related isoforms gamma-3, gamma-4 and gamma-8 were shown to function as auxiliary subunits for a very different ion channel - the AMPA-type glutamate receptor - prominently regulating early intracellular transport, synaptic targeting and anchoring, and ion channel functions of this major excitatory receptor in the brain.