Gene Symbol | MAN1B1 |
Entrez Gene ID | 11253 |
Full Name | mannosidase alpha class 1B member 1 |
Synonyms | ERMAN1,ERManI,MANA-ER,MRT15 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 15, 614202 (3) |