Reactome | MANBA hydrolyses GlcNAc:Man

MANBA hydrolyses GlcNAc:Man

Stable Identifier

R-HSA-8853710

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

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Beta-mannosidase (MANBA) is the final exoglycosidase in the degradation pathway for N-linked oligosaccharides of glycoproteins, cleaving the beta-mannoside linkage of the disaccharide Man-1,4-GlcNAc (Alkhayat et al. 1998, Percheron et al. 1992). Defects in MANBA causes beta-mannosidosis (MIM:248510), a lysosomal storage disease of glycoprotein catabolism. A wide range of symptoms are observed, dependent on age of onset. The disease is associated with various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy (Alkhayat et al. 1998, Molho-Pessach et al. 2007).

Literature References

PubMed ID	Title	Journal	Year
1576208	Mammalian beta-D-mannosidase and beta-mannosidosis Percheron, F, Foglietti, MJ, Bernard, M, Ricard, B	Biochimie	1992
17420068	Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation Molho-Pessach, V, Bargal, R, Abramowitz, Y, Doviner, V, Ingber, A, Raas-Rothschild, A, Ne'eman, Z, Zeigler, M, Zlotogorski, A	J. Am. Acad. Dermatol.	2007
9384606	Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis Alkhayat, AH, Kraemer, SA, Leipprandt, JR, Macek, M, Kleijer, WJ, Friderici, KH	Hum. Mol. Genet.	1998