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MAN1B1
Mannosidase, Alpha, Class 1B, Member 1
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.
| Gene Name: | Mannosidase, Alpha, Class 1B, Member 1 |
| Synonyms: | MAN1B1 |
| Target Sequences: | NM_016219 NP_057303.2 Q9UKM7 |
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