Analysis of NEB Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1475-LGZ)

Introduction

Official Full Name: nebulin
Also known as: AMC6; NEM2; NEB177D
The gene encodes nebulin, a bulky protein component of the cytoskeletal matrix that co-exists with thick and thin filaments within sarcomeres of skeletal muscle. In most vertebrates, nebulas proteins make up 3% to 4% of total myofibrillar proteins. The encoded protein contains about 30 amino acid long modules, which can be divided into 7 types and other repeating modules. Protein isoforms vary in size from 600 to 800 kD due to tissue-, species- and developmental stage-specific alternative splicing. Of the 183 exons in the Nebula gene, at least 43 were alternatively spliced, although exons 143 and 144 were not found in the same transcript. Among the several thousand transcript variants predicted for Nebula, the RefSeq project decided to create three representative RefSeq records. Mutations in this gene are associated with recessive linear myopathy.