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