HGSNAT gene homepage

General information
Gene symbol HGSNAT
Gene name heparan-alpha-glucosaminide N-acetyltransferase
Chromosome 8
Chromosomal band p11.1
Imprinted Unknown
Genomic reference NG_009552.1
Transcript reference NM_152419.2
Exon/intron information NM_152419.2 exon/intron table
Associated with diseases MPS-3C, RP-73
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Alexey Pshezhetsky
Total number of public variants reported 211
Unique public DNA variants reported 92
Individuals with public variants 125
Hidden variants 13
Download all this gene's data Download all data
Notes We gratefully acknowledge the work of curator St├ęphanie Durand (2008-2012).
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 10, 2008
Date last updated March 08, 2019
Version HGSNAT:190308

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_152419.2.
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
Homepage URL https://www.LOVD.nl/HGSNAT
External URL Orphanet
HGNC 26527
Entrez Gene 138050
PubMed articles HGSNAT
OMIM - Gene 610453
OMIM - Diseases MPS-3C (mucopolysaccharidosis, type IIIC (MPS-3C))
RP-73 (retinitis pigmentosa, type 73 (RP-73))
HGMD HGSNAT
GeneCards HGSNAT
GeneTests HGSNAT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000053 8 heparan-alpha-glucosaminide N-acetyltransferase NM_152419.2 NP_689632.2 211


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 © 2008-2019. 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.