| ncRNA Symbol: | MAN1B1 |
| Full Name: | mannosidase alpha class 1B member 1 |
| Category: | mRNA |
| Synonyms: | ERMAN1|ERManI|MANA-ER|MRT15 |
| Chromosome: | chr9 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 137086927 | End Site(bp): | 137109187 |
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| Gene Summary: | 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] |
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