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, NM_213613.3
Associated with diseases ID, MPS-1H, MPS-1HS, MPS-1S
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 369
Unique public DNA variants reported 42
Individuals with public variants 35
Hidden variants 18
Date created November 30, -0001
Date last updated September 28, 2016
Version IDUA: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:5391
Entrez Gene 3425
PubMed articles IDUA
OMIM - Gene 252800
OMIM - Diseases MPS-1H (Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H)))
MPS-1HS (Hurler-Scheie syndrome (mucopolysaccharidosis (MPS-1HS)))
MPS-1S (Scheie syndrome (mucopolysaccharidosis (MPS-1S)))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00027413 4 Manually created transcript (expired, new version available) NM_000203.3 - 272
00031609 4 Manually created transcript (removed from reference sequence) NM_213613.3 - 172