Analysis of OBSCN Gene (Mutation) in Hereditary Spastic Paraplegia by RT-qPCR (CAT#: STEM-MT-0200-LGZ)

Introduction

Also known as: UNC89; RHABDO1; ARHGEF30<br />The gene is more than 150 kb in length, contains more than 80 exons, and encodes a protein of about 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin binding domain, 1 RhoGEF domain and associated PH domain, and 2 serine-threonine kinases domain. This protein belongs to the huge family of sacral muscle signaling proteins including titin and nebulin, and may play a role in the organization during myofibril assembly and may mediate the interaction between the sarcoplasmic reticulum and myofibrils. Alternative splicing transcript variants encoding different isoforms have been identified.