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]
Forensic Context
A study in mice demonstrated that chronic methamphetamine administration significantly dysregulated the MAN1B1 in microglia, indicating its involvement in the protein processing of endoplasmic reticulum pathway as part of the broader glial-mediated molecular mechanisms of methamphetamine-induced neurotoxicity [Oladapo et al. DOI:10.3390/Ijms26020649].