DISEASES

Disease-gene associations mined from literature

Literature associating CACNG3 and childhood absence epilepsy

CACNG3 [ENSP00000005284]

Voltage-dependent calcium channel gamma-3 subunit; Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state.

Synonyms:  CACNG3,  CACNG3p,  hCACNG3,  O60359,  O60359p ...

Linkouts:  STRING  Pharos  UniProt  OMIM