MAN1B1 Antibody – Rabbit Polyclonal

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]

MAN1B1: Involved in glycoprotein quality control targeting of misfolded glycoproteins for degradation. It primarily trims a single alpha-1,2-linked mannose residue from Man(9)GlcNAc(2) to produce Man(8)GlcNAc(2), but at high enzyme concentrations, as found in the ER quality control compartment (ERQC), it further trims the carbohydrates to Man(5-6)GlcNAc(2). Defects in MAN1B1 are the cause of mental retardation autosomal recessive type 15 (MRT15). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Belongs to the glycosyl hydrolase 47 family.

Protein type: Endoplasmic reticulum; Glycan Metabolism - N-glycan biosynthesis; EC 3.2.1.113; Hydrolase; Calcium-binding; Membrane protein, integral

Chromosomal Location of Human Ortholog: 9q34

Cellular Component: endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to membrane; vesicle

Molecular Function: mannosyl-oligosaccharide 1,2-alpha-mannosidase activity; calcium ion binding

Biological Process: ER-associated protein catabolic process; cellular protein metabolic process; protein folding; protein amino acid N-linked glycosylation; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; oligosaccharide metabolic process

Disease: Mental Retardation, Autosomal Recessive 15