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Aspartylglucosaminidase (AGA)

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AGU; ASRG; GA; N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; Glycosylasparaginase; N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase

Aspartylglucosaminidase (AGA)
CCC C320
HGNC 318
MGI 104873
PubMed 1703489
RGD 1309646
UniProt P20933
Wiki AGA

Aspartylglucosaminidase is an amidohydrolase enyzme 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.

Defects in AGA are the cause of aspartylglucosaminuria (AGU) . AGU is an inborn lysosomal storage disease. Clinical features of AGU include mild to severe mental retardation manifesting from the age of 2, coarse facial features and mild connective tissue abnormalities. This recessively inherited disease is overrepresented in the Finnish population.
 

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC320Hu01 Recombinant Aspartylglucosaminidase (AGA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC320Hu01 Polyclonal Antibody to Aspartylglucosaminidase (AGA) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Aspartylglucosaminidase (AGA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aspartylglucosaminidase (AGA) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC320Mu01 Recombinant Aspartylglucosaminidase (AGA) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC320Mu01 Polyclonal Antibody to Aspartylglucosaminidase (AGA) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Aspartylglucosaminidase (AGA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aspartylglucosaminidase (AGA) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aspartylglucosaminidase (AGA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aspartylglucosaminidase (AGA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aspartylglucosaminidase (AGA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aspartylglucosaminidase (AGA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aspartylglucosaminidase (AGA) ELISA Kit Customized Service Offer
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  2. ErratumFEBS Lett. 276:232-232(1990) [PubMed] [Europe PMC] [Abstract]
  3. "Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease."EMBO J. 10:51-58(1991) [PubMed] [Europe PMC] [Abstract]
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  13. "Three-dimensional structure of human lysosomal aspartylglucosaminidase."Nat. Struct. Biol. 2:1102-1108(1995) [PubMed] [Europe PMC] [Abstract]
  14. "Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease."Hum. Mutat. 1:361-365(1992) [PubMed] [Europe PMC] [Abstract]
  15. "Ser72-->Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation."Hum. Mol. Genet. 5:737-743(1996) [PubMed] [Europe PMC] [Abstract]
  16. "Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation."Clin. Genet. 51:174-178(1997) [PubMed] [Europe PMC] [Abstract]
  17. "Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations."Hum. Mol. Genet. 10:983-995(2001) [PubMed] [Europe PMC] [Abstract]