MANBA hydrolyses GlcNAc:Man

Stable Identifier
R-HSA-8853710
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
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
1576208 Mammalian beta-D-mannosidase and beta-mannosidosis

Percheron, F, Foglietti, MJ, Bernard, M, Ricard, B

Biochimie 1992
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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
beta-mannosidase activity of MANBA [lysosomal lumen]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created