View GNPTAB gene homepage

General information
Gene symbol GNPTAB
Gene name N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Chromosome 12
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_021243.1
Transcript reference NM_024312.4
Exon/intron information NM_024312.4
Associated with diseases ML-2, ML-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 34
Unique public DNA variants reported 34
Individuals with public variants 97
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated July 03, 2016
Version GNPTAB:160703

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
Homepage URL http://www.LOVD.nl/GNPTAB
External URL Orphanet
HGNC 29670
Entrez Gene 79158
PubMed articles GNPTAB
OMIM - Gene 607840
OMIM - Diseases ML-2 (ICD)
ML-3 (mucolipidosis, type III, alpha/beta (ML-3, pseudo-Hurler polydystrophy))
HGMD GNPTAB
GeneCards GNPTAB
GeneTests GNPTAB


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023993 12 N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits NM_024312.4 NP_077288.2 34


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