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Gene : AGA Homo sapiens

Name  ? aspartylglucosaminidase Cytological Location  4q34.3
Brief Description  aspartylglucosaminidase
Description  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]
  • synonyms:
  • N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase,
  • AGA,
  • ASRG,
  • X55330,
  • OTTHUMG00000160723,
  • AGU,
  • uc003iuu.3,
  • GA,
  • glycosylasparaginase,
  • HGNC:318,
  • NM_000027,
  • ASRG
  • identifiers:
  • 175,
  • ENSG00000038002,
  • AGA

Genome feature

Region: gene ? Length: 11730  
Location: 4:177430774-177442503 reverse strand Cyto location: 4q34.3


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1 Diseases

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3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results