Ion channel auxiliary subunit, Voltage-gated calcium channel subunit
01
Overview
Calcium voltage-gated channel auxiliary subunit beta 3 (CACNB3) is a regulatory beta subunit of the voltage-dependent calcium channels (primarily the L-type) that are essential for the proper function of excitable cells, such as neurons and muscle.
Regulation of ion transmembrane transportRegulation of voltage-gated calcium channel activityCalcium ion transportRegulation of channel activation and inactivationSignal transduction
03
Disease associations
Epileptic encephalopathy (specifically, developmental and epileptic encephalopathy 69)Distal hereditary motor neuronopathy (autosomal dominant 2)Other neurological diseases may be implicated
04
Safety considerations
Potential role in neuronal excitability and muscle function raises theoretical risk for neurological or muscular side effects if modulated, but no known direct therapeutic targeting or associated clinical safety concerns are currently reported[1]
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