Full name: alpha-L-iduronidase

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 21355bp

Exon count: 18