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aspartylglucosaminidase (N-aspartyl-beta-glucosaminidase, N4-(beta-N-acetylglucosaminyl)-L-asparaginase, glycosylasparaginase, [contains: glycosylasparaginase alpha chain; glycosylasparaginase beta chain], AGA)

Function: - cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins N(4)-(beta-N-acetyl-D-glucosaminyl)-L- asparagine + H2O N-acetyl-beta-D-glucosaminylamine + L-aspartate Structure: - heterotetramer of two alpha & two beta chains - belongs to the asparaginase 2 family Compartment: Lysosome Pathology: - defects in AGA are the cause of aspartylglucosaminuria Laboratory: - aspartylglucosaminidase in fibroblasts - aspartylglucosaminidase in leukocytes

Related

AGA gene mutation

General

amidohydrolase lysosomal hydrolase

Properties

SIZE: entity length = 346 aa MW = 37 kD COMPARTMENT: lysosome MOTIF: signal sequence {1-23} N-glycosylation site {N38} cysteine residue {C64} MODIFICATION: cysteine residue {C69} cysteine residue {C69} MODIFICATION: cysteine residue {C64} cysteine residue {C163} MODIFICATION: cysteine residue {C179} cysteine residue {C179} MODIFICATION: cysteine residue {C163} threonine residue {T206} cysteine residue {C286} MODIFICATION: cysteine residue {C306} cysteine residue {C306} MODIFICATION: cysteine residue {C286} N-glycosylation site {N308} cysteine residue {C317} MODIFICATION: cysteine residue {C345} cysteine residue {C345} MODIFICATION: cysteine residue {C317}

Database Correlations

OMIM 208400 UniProt P20933 Pfam PF01112 Entrez Gene 175 ENZYME 3.5.1.26

References

  1. OMIM :accession 208400
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=AGA
  3. UniProt :accession P20933