MAN1B1 Polyclonal Antibody, 20ul 3D Culture Mutations in this gene have

Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM)

This gene has been found to be rearranged

CGGBP1 (CGG triplet repeat binding protein 1) influences expression of the FMR1 gene (MIM 309550)

smooth muscle

MAN1B1 Polyclonal Antibody, 20ul 3D Culture Mutations in this gene haveMAN1B1 encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N glycan biosynthesis, and is a class I alpha 1,2 mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N glycan trimming to Man5 6GlcNAc2 in the endoplasmic reticulum associated degradation pathway. Mutations in this gene cause autosomal recessive intellectual disability. Alternative splicing results in multiple