Analysis of LAMTOR2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1096-LGZ)

Introduction

Official Full Name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
Also known as: p14; ENDAP; ROBLD3; HSPC003; MAPBPIP; MAPKSP1AP; Ragulator2
The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffolding protein 1, a component of the mitogen-activated protein kinase pathway In humans, mutations in this gene are associated with primary immunodeficiency syndrome and suggest a role for this protein in endosomal biogenesis. Multiple transcript variants of this gene have been found encoding different isoforms.