Analysis of BIN1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1698-LGZ)

Introduction

Official Full Name: bridging integrator 1<br />Also known as: CNM2; AMPH2; AMPHL; SH3P9<br />This gene encodes several isoforms of the nucleocytoplasmic adapter protein, one of which was originally identified as a myc-interacting protein with features of a tumor suppressor. The isoform expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynein, synapsin, endophilin, and clathrin. The isoform expressed in muscle and the ubiquitously expressed isoform localized to the cytoplasm and nucleus and activated caspase-independent apoptotic processes. Mouse studies have shown that the gene plays an important role in heart muscle development. Alternative splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described.