MAN1B1 Polyclonal Antibody, 50ul Glassware Sets This gene is a candidate

This gene is a candidate gene for Hirschsprung disease

This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family

hereditary hemorrhagic telangiectasia

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At least three transcript variants encoding different isoforms have been found for this gene

MAN1B1 Polyclonal Antibody, 50ul Glassware Sets This gene is a candidateMAN1B1 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