Gene Symbol | CACNG2 |
Entrez Gene ID | 10369 |
Full Name | calcium voltage-gated channel auxiliary subunit gamma 2 |
Synonyms | MRD10 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. The AMPA subtype of ionotropic glutamate receptors are ligand gated ion channels that are typically activated by glutamate released from presynaptic neuron terminals and mediate fast neurotransmission in excitatory synapses. TARPs thus play an important role in synaptic plasticity, learning and memory. Mutations in this gene cause an autosomal dominant form of cognitive disability. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | ?Mental retardation, autosomal dominant 10, 614256 (3) |