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FLASH GENE
Symbol KCNMB3 contributors: - updated : 31-01-2007
HGNC name potassium large conductance calcium-activated channel, subfamily M beta member 3
HGNC id 6287
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two membrane domains with a large extracellular loop
  • a potentially coiled coil structure
  • a N glycosylation region
  • extracellular domain with disulfide bond essential for the gating mechanism
    • HOMOLOGY
    Homologene
    FAMILY
  • subfamily M, modulatory beta member 3
  • KCNMB family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • potassium non voltage gated large conductance calcium activated channel
  • fundamental in the control of smooth muscle tone and neuronal excitability
  • auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • calcium activated potassium (BK) channel
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with KCNMA1 tetramer, (its effects on KCNMA1 channel properties were slight, increasing KCNMA1 activation rates)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to idiopathic generalized epilepsy, or typical absence seizures
    Variant & Polymorphism insertion/deletion delA750 mutation was significantly increased in idiopathic generalized epilepsy, or typical absence seizures
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS