CACNG3
Description
The CACNG3 (calcium voltage-gated channel auxiliary subunit gamma 3) is a protein-coding gene located on chromosome 16.
CACNG3, or Voltage-dependent calcium channel gamma-3 subunit, is a protein encoded by the CACNG3 gene. It is one of several gamma subunit proteins that are part of the L-type calcium channel, composed of five subunits. CACNG3 is an integral membrane protein thought to stabilize the calcium channel in an inactive (closed) state. Similar to the mouse stargazin protein, mutations in CACNG3 have been associated with absence seizures. It is a member of the neuronal calcium channel gamma subunit gene subfamily and is a candidate gene for a familial infantile convulsive disorder with paroxysmal choreoathetosis.
CACNG3 regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs). It promotes the targeting of AMPARs to the cell membrane and synapses, and modulates their gating by slowing their activation, deactivation, and desensitization rates. CACNG3 regulates all AMPAR subunits without subunit-specificity. Additionally, it is believed to stabilize the calcium channel in an inactivated (closed) state.
CACNG3 is also known as -.
Associated Diseases
- endometrial cancer
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- hypercholesterolemia, autosomal dominant, 3
- hyperlipoproteinemia type V
