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]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
MAN1B1-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
MAN1B1-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
MAN1B1-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
MAN1B1-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
MAN1B1-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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]
Gene Symbol : MAN1B1
Gene Name : Mannosidase alpha class 1B member 1
Chromosome : CHR 9: 137,086,861-137,109,186
Locus : 9q34.3
Alt. Genes : CLEC3A
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