AGA, Official Symbol AGAprovided by HGNC Official Full Name aspartylglucosaminidaseprovided by HGNC Primary source HGNC:HGNC:318 See related Ensembl:ENSG00000038002 MIM:613228; AllianceGenome:HGNC:318 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GA; AGU; ASRG Summary 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] Expression Ubiquitous expression in thyroid (RPKM 10.5), testis (RPKM 10.0) and 25 other tissues See more Orthologs mouse all