Analysis of SLC5A7 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1449-LGZ)

Introduction

Official Full Name: solute carrier family 5 member 7<br />Also known as: CHT; CHT1; CMS20; HMN7A; DHMNVP<br />This gene encodes a sodium- and chloride-dependent high-affinity transporter that mediates choline uptake and synthesis of acetylcholine in cholinergic neurons. This protein transports choline from the extracellular space to the presynaptic terminal where acetylcholine is synthesized. The increased choline uptake results from an increased density of this protein in the synaptosomal plasma membrane in response to depolarization of the cholinergic terminals. Dysfunction of cholinergic signaling has been linked to a variety of disorders, including depression, attention deficit disorder, and schizophrenia. Allelic variants in this gene are associated with autosomal dominant distal motor neuropathy type VIIA. Alternative splicing results in multiple transcript variants.