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

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

Stable Identifier

R-HSA-8853686

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

Locations in the PathwayBrowser

Expand all

General

SBML | | PDF

SVG | | PPTX | SBGN

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

Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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