Gene: MAN1B1
Alternate names for this Gene: ERMAN1|ERManI|MANA-ER|MRT15
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.
Gene is located in Chromosome: 9
Location in Chromosome : 9q34.3
Description of this Gene: mannosidase alpha class 1B member 1
Type of Gene: protein-coding
rs1382373816 in
MAN1B1 gene and
Dysmorphic features
PMID 24348268 2013 MAN1B1 deficiency: an unexpected CDG-II.
PMID 26279649 2015 MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
PMID 21763484 2011 Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
PMID 24566669 2014 Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
PMID 26577042 2016 Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.