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
Exon/intron information NM_000263.3 exon/intron table
Associated with diseases CMT2V, ID, MPS3B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 90
Individuals with public variants 29
Hidden variants 10
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 07, 2023
Version NAGLU:230707

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_000263.3.
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
Homepage URL
HGNC 7632
Entrez Gene 4669
PubMed articles NAGLU
OMIM - Gene 609701
OMIM - Diseases CMT2V (Charcot-Marie-Tooth disease?, axonal, type 2V (CMT-2V))
MPS3B (mucopolysaccharidosis, type IIIB (MPS-3B))
GeneCards NAGLU
GeneTests NAGLU
Orphanet NAGLU

Active transcripts




NCBI ID     

NCBI Protein ID     

00014259 17 N-acetylglucosaminidase, alpha NM_000263.3 NP_000254.2 140

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