Aliases for MANBA Gene
External Ids for MANBA Gene
Previous GeneCards Identifiers for MANBA Gene
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]
GeneCards Summary for MANBA Gene
MANBA (Mannosidase Beta) is a Protein Coding gene. Diseases associated with MANBA include Mannosidosis, Beta A, Lysosomal and Common Variable Immunodeficiency. Among its related pathways are Innate Immune System and Lysosome. Gene Ontology (GO) annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and beta-mannosidase activity. An important paralog of this gene is GUSB.
UniProtKB/Swiss-Prot Summary for MANBA Gene
Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.