The AGA gene homepage

General information
Gene symbol AGA
Gene name aspartylglucosaminidase
Chromosome 4
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NG_011845.2
Transcript reference NM_000027.3
Exon/intron information NM_000027.3 exon/intron table
Associated with diseases AGU, ID
Citation reference(s) PubMed: Ikonen et al. 1991
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 72
Unique public DNA variants reported 54
Individuals with public variants 32
Hidden variants 5
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.

This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created April 05, 2011
Date last updated March 18, 2021
Version AGA:210318

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000027.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL Orphanet
Finnish Disease Database (FinDis)
OMIM#208400 Aspartylglucosaminuria
HGNC 318
Entrez Gene 175
PubMed articles AGA
OMIM - Gene 613228
OMIM - Diseases AGU (aspartylglucosaminuria (AGU))
HGMD AGA
GeneCards AGA
GeneTests AGA
Orphanet AGA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000003 4 aspartylglucosaminidase, transcript variant 1 NM_000027.3 NP_000018.2 72


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.