IDUA, Official Symbol IDUAprovided by HGNC Official Full Name alpha-L-iduronidaseprovided by HGNC Primary source HGNC:HGNC:5391 See related Ensembl:ENSG00000127415 MIM:252800; AllianceGenome:HGNC:5391 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IDA; MPS1; MPSI Summary This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 4.2), stomach (RPKM 4.1) and 25 other tissues See more Orthologs mouse all