Analysis of USH2A Gene (Mutation) in Usher Syndrome by RT-qPCR (CAT#: STEM-MT-0181-LGZ)

Introduction

Also known as: US2; RP39; USH2; dJ1111A8.1
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane and may play an important role in the development and homeostasis of the inner ear and retina. Mutations in this gene are associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene.