Beta Mannosidase (Beta-Manase) (MANBA) ELISA Kit for Goat

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]

MANBA: Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides. Defects in MANBA are the cause of a mild disorder that affects peripheral and central nervous system myelin. Defects in MANBA are the cause of lysosomal beta- mannosidosis (LYSBMAN). Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta-mannosidase activity in plasma, fibroblasts and leukocytes. Belongs to the glycosyl hydrolase 2 family.

Protein type: EC 3.2.1.25; Glycan Metabolism - other glycan degradation; Hydrolase

Chromosomal Location of Human Ortholog: 4q24

Cellular Component: intracellular membrane-bound organelle; lysosome

Molecular Function: beta-mannosidase activity

Biological Process: mannan catabolic process; carbohydrate metabolic process; protein modification process; glycoprotein catabolic process

Disease: Mannosidosis, Beta A, Lysosomal