Analysis of LDB3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2073-LGZ)

Introduction

Official Full Name: LIM domain binding 3<br />Also known as: MFM4; ZASP; CMD1C; CMH24; CMPD3; LVNC3; CYPHER; LDB3Z1; LDB3Z4; ORACLE; PDLIM6<br />This gene encodes a protein containing a PDZ domain. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. Proteins containing PDZ domains interact in cytoskeletal assembly or with other proteins involved in membrane protein targeting and clustering. The protein encoded by this gene interacts with α-actin 2 through its N-terminal PDZ domain and with protein kinase C through its C-terminal LIM domain. The LIM domain is a cysteine-rich motif defined by 50–60 amino acids comprising two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene are associated with fibromyalgia and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have an n-terminal PDZ domain, whereas only the longer isoforms (1, 2, and 5) have a c-terminal LIM domain.