Analysis of ESPN Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1314-LGZ)

Introduction

Official Full Name: espin
Also known as: USH1M; DFNB36; LP2654
This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement.