MAN2B1 hydrolyses GlcNAc (Man)5 to GlcNAc (Man)3

Stable Identifier
R-HSA-8853686
Type
Reaction
Species
Homo sapiens
Compartment
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Lysosomal alpha-mannosidase (MAN2B1) belongs to a broad alpha-mannosidase family called class 2 alpha-mannosidases (CAZy glycosylhydrolase family 38, GH38). GH38 members are found in the Golgi complex, lysosomes, and cytosol where they are involved in either glycoprotein biosynthesis or catabolism. MAN2B1 (Liao et al. 1996, Berg et al. 1999) is involved in the sequential hydrolysis of mannose oligosaccharides sent to lysosomes for degradation. From the non-reducing end, MAN2B1 catalyses the hydrolysis of alpha(1,2), alpha(1,3) and alpha(1,6) mannosidic linkages (Beccari et al. 1999). Defects in the MAN2B1 gene cause alpha-mannosidosis (MIM:248500), a rare lysosomal storage disease. The disorder is characterised by a range of clinical phenotypes, the major manifestations being mental impairment, hearing impairment, skeletal changes, and immunodeficiency (Borgwardt et al. 2014, Riise Stensland et al. 2015).

Literature References
PubMed ID Title Journal Year
25345101 Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

Lund, AM, Dali, CI, Borgwardt, L

Pediatr Endocrinol Rev 2014
10513892 Lysosomal alpha-D-mannosidase

Beccari, T, Orlacchio, A, Stinchi, S

Biosci. Rep. 1999
8910458 Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase

Moremen, KW, Lal, A, Liao, YF

J. Biol. Chem. 1996
11350179 Purification and characterization of recombinant human lysosomal alpha-mannosidase

Berg, T, King, B, Meikle, PJ, Tollersrud, OK, Nilssen, O, Hopwood, JJ

Mol. Genet. Metab. 2001
25762455 amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis

Klenow, HB, Riise Stensland, HM, Malm, D, Frantzen, G, Nilssen, Ø, Buvang, EK, Kuokkanen, E, Heikinheimo, P

Hum. Mutat. 2015
Participants
Participates
Catalyst Activity

alpha-mannosidase activity of MAN2B1:Zn2+ [lysosomal lumen]

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