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].
Adachi, Pan, He, Chen, Klein, Platenburg, Morais, Boutz, Yu: "Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes." in: Molecular cell, Vol. 83, Issue 4, pp. 637-651.e9, (2023) (PubMed).
Gutierrez-Valdes, Häkkinen, Lemasson, de Groot, Ele-Ekouna, Guillet, Cardon, Ritala: "Improving yield of a recombinant biologic in a Brassica hairy root manufacturing process." in: Biotechnology and bioengineering, (2022) (PubMed).
Cardon, Pallisse, Bardor, Caron, Vanier, Ele Ekouna, Lerouge, Boitel-Conti, Guillet: "Brassica rapa hairy root based expression system leads to the production of highly homogenous and reproducible profiles of recombinant human alpha-L-iduronidase." in: Plant biotechnology journal, Vol. 17, Issue 2, pp. 505-516, (2019) (PubMed).