Analysis of GPSM2 Gene (Mutation) in Chudley-McCullough Syndrome by RT-Qpcr (CAT#: STEM-MT-0120-LGZ)

Introduction

Also known as: LGN; CMCS; PINS; DFNB82
The protein encoded by this gene belongs to a family of proteins that regulate the activation of G proteins, which translate extracellular signals received by cell surface receptors into an overall cellular response. The n-terminus of the protein contains 10 LGN repeats, and the c-terminus contains 4 GoLoco motifs involved in guanine nucleotide exchange. The protein may play a role in neuroblast division and normal hearing development. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants.