Analysis of KCND3 Gene (Mutation) in Spinocerebellar Ataxia Type 19/22 by RT-qPCR (CAT#: STEM-MT-0124-LGZ)

Introduction

Also known as: KV4.3; SCA19; SCA22; BRGDA9; KCND3L; KCND3S; KSHIVB<br />Voltage-gated potassium channels are the most complex class of voltage-gated ion channels from both functional and structural points of view. Their diverse functions include regulation of neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes—shaker, shaw, shab, and shall—were found in Drosophila and each had human orthologs. This gene encodes a member of the potassium channel, voltage-gated, Shal-associated subfamily, members of which form voltage-activated A-type potassium channels and are prominent during the repolarization phase of the action potential. This member includes two isoforms of different sizes, which are encoded by alternatively spliced transcript variants of this gene.