Aliases for AGA Gene
External Ids for AGA Gene
Previous GeneCards Identifiers for AGA Gene
This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
GeneCards Summary for AGA Gene
AGA (Aspartylglucosaminidase) is a Protein Coding gene. Diseases associated with AGA include Aspartylglucosaminuria and Lysosomal Storage Disease. Among its related pathways are Lysosome and Other glycan degradation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and protein self-association. An important paralog of this gene is TASP1.
UniProtKB/Swiss-Prot Summary for AGA Gene
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.