Entrez gene ID | | 175 |
Official gene symbol | | AGA |
Full name | | aspartylglucosaminidase |
Aliases | | ,AGU,ASRG,GA, |
Gene summary | | Aspartylglucosaminidase 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. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q32-q33 |
Gene position | | 178363657 - 178351928 Map Viewer |
Gene orientation | | minus |
Gene size | | 11730 bp |
Gene sequence |
| |
OMIM ID | | 613228 |
|