NCBI Description of MAN1B1
|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.|
Community Annotation of MAN1B1 Add / Edit MAN1B1: Annotations
No community annotations yet for MAN1B1.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.