AGA aspartylglucosaminidase
Gene ID: 175, updated on 14-Nov-2024Gene type: protein coding
Also known as: GA; AGU; ASRG
- See all available tests in GTR for this gene
- Go to complete Gene record for AGA
- Go to Variation Viewer for AGA variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Aspartylglucosaminuria | See labs |
| Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system. GeneReviews: Not available | |
| Genome-wide association study of serum selenium concentrations. GeneReviews: Not available | |
| No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk. GeneReviews: Not available |
Genomic context
- Location:
- 4q34.3
- Sequence:
- Chromosome: 4; NC_000004.12 (177430774..177442437, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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