Analysis of DCTN1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1790-LGZ)

Introduction

Official Full Name: dynactin subunit 1<br />Also known as: P135; DP-150; DAP-150<br />This gene encodes the largest subunit of dynactin, a macromolecular complex of 10 subunits ranging in size from 22 to 150 kd. Dynein associates with microtubules and cytoplasmic dynein. Dynactin is involved in a variety of cellular functions, including endoplasmic reticulum to Golgi transport, centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear localization, and axonogenesis. This subunit interacts with the dynein middle chain, and its domains directly bind dynein and microtubules through its highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain at its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA).