GeneID: 253



Names

Common Name: MAN2B1 Type: Gene
Chromosome: 19 (NC_000019.10) Locus: NG_008318.1 (MAN2B1)
HUGO Symbol: MAN2B1 Full Name: mannosidase alpha class 2B member 1
Exons: 24 Introns: 23

Description:
The MAN2B1 gene encodes the enzyme lysosomal alpha-mannosidase, which is involved in the catabolism of oligosaccharides released during glycoprotein turnover. It belongs to the glycoside hydrolase family 38. It cleaves alpha-linked mannose residues from the nonreducing end of N-linked glycoproteins. The encoded protein is a 1011 amino acid precursor that is proteolytically processed into three main polypeptides of 70, 42, and 15 kDa. These peptides are referred to as 'abc', 'd', and 'e', respectively. The 'abc' peptide is further processed into three more peptides that are joined by disulfide bridges. The precursor is enzymatically active, hence the proteolytic processing is probably a result of the acidic environment in the lysosome. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Leukocytes isolated from human blood exhibit strong α-mannosidase activity. A MAN2B1 variant has been associated with leukocytosis in sickle cell anaemia.

Synonyms: MANB , LAMAN

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Avila JL, Convit J, Characterization and properties of alpha-D-mannosidase of human polymorphonuclear leucocytes., Clin. Chim. Acta, 47(3), 335-45, 1973 PubMed
  2. Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis., Am. J. Hum. Genet., 63(4), 1015-24, 1998 PubMed
  3. Riise Stensland HM, Klenow HB, Van Nguyen L, Hansen GM, Malm D, Nilssen Ø, Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations., Hum. Mutat., 33(3), 511-20, 2012 PubMed
  4. Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM, Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation., Orphanet J Rare Dis, 10(0), 70, 2015 PubMed
  5. Schaefer BA, Flanagan JM, Alvarez OA, Nelson SC, Aygun B, Nottage KA, George A, Roberts CW, Piccone CM, Howard TA, Davis BR, Ware RE, Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia., PLoS ONE , 11(10), e0164364, 2016 PubMed
Created on 2019-03-19 11:39:38, Last reviewed on (Show full history)


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