Analysis of GPSM2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1198-LGZ)

Introduction

Official Full Name: G protein signaling modulator 2
Also known as: LGN; CMCS; PINS; DFNB82
The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants.