The NAGLU gene homepage

General information
Gene symbol NAGLU
Gene name N-acetylglucosaminidase, alpha
Chromosome 17
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_011552.1
Transcript reference NM_000263.3
Associated with diseases CMT-2V, ID, MPS-3B
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 162
Unique public DNA variants reported 13
Individuals with public variants 35
Hidden variants 3
Date created November 30, -0001
Date last updated September 28, 2016
Version NAGLU:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:7632
Entrez Gene 4669
PubMed articles NAGLU
OMIM - Gene 609701
OMIM - Diseases CMT-2V (Charcot-Marie-Tooth disease?, axonal, type 2V (CMT-2V))
MPS-3B (mucopolysaccharidosis, type IIIB (MPS-3B))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00012936 17 N-acetylglucosaminidase, alpha NM_000263.3 NP_000254.2 162