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FLASH GENE
Symbol CACNG3 contributors: - updated : 23-04-2007
HGNC name calcium channel, voltage-dependent, gamma subunit 3
HGNC id 1407
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
glycosylated transmembrane subunit, tightly linked to alpha 1 subunit
HOMOLOGY
interspecies ortholog to mouse stargazin protein
Homologene
FAMILY neuronal calcium channel gamma subunit gene subfamily of the PMP-22/EMP/MP20 family
CATEGORY transport channel
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • calcium voltage-gated channel (VDCC), L type
  • dihydropyridine (DPH) sensitive, gamma regulatory subunit 3, may be stabilizing the calcium channel in an inactivated state
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to childhood absence epilepsy
    Variant & Polymorphism other four variants are predicted to affect exonic splicing, and increasing the risk of childhood absence epilepsy
    Candidate gene for a familial infantile convulsive disorder with paroxysomal choreoathetosis
    Marker
    Therapy target
    ANIMAL & CELL MODELS