The IDUA gene homepage

General information
Gene symbol IDUA
Gene name iduronidase, alpha-L-
Chromosome 4
Chromosomal band p16.3
Imprinted Unknown
Genomic reference NG_008103.1
Transcript reference NM_000203.3
Exon/intron information NM_000203.3 exon/intron table
Associated with diseases ID, MPS1H, MPS1HS, Scheie
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 371
Unique public DNA variants reported 178
Individuals with public variants 294
Hidden variants 22
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 April 29, 2010
Date last updated November 01, 2022
Version IDUA:221101

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_000203.3.
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 5391
Entrez Gene 3425
PubMed articles IDUA
OMIM - Gene 252800
OMIM - Diseases MPS1H (Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H)))
MPS1HS (Hurler-Scheie syndrome (mucopolysaccharidosis (MPS-1HS)))
Scheie (MPS1S)
GeneCards IDUA
GeneTests IDUA
Orphanet IDUA

Active transcripts




NCBI ID     

NCBI Protein ID     

00000167 4 iduronidase, alpha-L- NM_000203.3 NP_000194.2 371

Copyright & disclaimer
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