Analysis of DENND5A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2221-LGZ)

Introduction

Official Full Name: DENN domain containing 5A<br />Also known as: DEE49; EIEE49; RAB6IP1<br />This gene encodes a denn domain-containing protein whose function is to activate the guanine nucleotide exchange factor (GEF) of Rab. This protein catalyzes the conversion of GDP to GTP, thereby converting the inactive GDP-bound Rab protein to the active GTP-bound form. The encoded protein is recruited to the Golgi membrane by RAB6 and is thus named RAB6-interacting protein 1. This protein also binds to RAB39. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49.