Analysis of ATP1A1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0132-LGZ)

Introduction

Also known as: CMT2DD; HOMGSMR2<br />The protein encoded by this gene belongs to the p-type cation transporting ATPase family and belongs to the Na+/K+ - ATPase subfamily. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradient of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, sodium-coupled transport of various organic and inorganic molecules, and electrical excitability in nerves and muscles. The enzyme is composed of two subunits, a larger catalytic subunit (α) and a smaller glycoprotein subunit (β). The catalytic subunit of Na+/K+ -atpase is encoded by multiple genes. This gene encodes the α1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene.