Analysis of MAN1B1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2001-LGZ)

Introduction

Official Full Name: mannosidase alpha class 1B member 1<br />Also known as: MRT15; ERMAN1; ERManI; MANA-ER<br />This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme plays a role in N-glycan biosynthesis and is a class of α-1,2-mannosidases that specifically convert Man9GlcNAc to Man8GlcNAc isoform b. N-glycan modification to Man5-6GlcNAc2 is required in the ER-associated degradation pathway. Mutations in this gene cause autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene was found on chromosome 11.