Gene:
calcium channel, voltage-dependent, gamma subunit 7
Description:
The mouse protein stargazin is one of five subunits comprising neuronal voltage-gated calcium channels. This subunit, gamma, is thought to stabilize the calcium channel in an inactive (closed) state. Mutations in the gene encoding stargazin have been associated with absence seizures, also known as petit-mal or spike-wave seizures. The protein encoded by this gene is structurally similar to the mouse stargazin protein and is a member of the neuronal calcium channel gamma subunit protein family. However, it appears unlikely that the encoded protein is part of a functional calcium channel. Rather, it appears to inhibit the expression of a specific calcium channel subunit.