Gene: MAN2B1

Alternate names for this Gene: LAMAN|MANB

Gene Summary: This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: mannosidase alpha class 2B member 1

Type of Gene: protein-coding

rs80338677 in MAN2B1 gene and Dysmorphic features PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

PMID 18651971 2008 Alpha-mannosidosis.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

rs1555706706 in MAN2B1 gene and Movement Disorders PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 18651971 2008 Alpha-mannosidosis.

rs763100457 in MAN2B1 gene and Multiple congenital anomalies PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 18651971 2008 Alpha-mannosidosis.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

rs1054486 in MAN2B1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs1008745697 in MAN2B1 gene and alpha-Mannosidosis PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 21505070 2011 Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

PMID 17979865 2007 Early onset alpha-mannosidosis with slow progression in three Hispanic males.

PMID 9915946 1999 Spectrum of mutations in alpha-mannosidosis.

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 19958498 2009 A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.

PMID 12718372 2003 Alpha-mannosidosis and mutational analysis in a Turkish patient.

PMID 21368911 2011 Clinical utility gene card for: α-mannosidosis.

PMID 15712269 2005 Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.

PMID 9158146 1997 alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.

PMID 15035660 2004 Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.

PMID 20165920 2010 The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

PMID 11959458 2002 alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 23613340 2013 Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.

PMID 12634058 2003 The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation.

PMID 1472354 1992 Phenotypic variability of mannosidosis type II: report of two Greek siblings.

PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).