靶标：
MAN1B1
产品别名：
ERMAN1； ERManI； MANA-ER； MRT15； MAN1B1； mannosidase alpha class 1B member 1； mannosidase alpha class 1B member 1； endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase； ER alpha 1,2-mannosidase； Man9GlcNAc2-specific processing alpha-mannosidase； endoplasmic Reticulum Class I alpha-mannosidase； endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1； 内质网α-甘露糖苷酶1；
背景信息：
This gene 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 transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011],
