Reactome | IDUA) hydrolyses the unsulfated alpha-L-iduronosidic link in DS

IDUA) hydrolyses the unsulfated alpha-L-iduronosidic link in DS

Stable Identifier

R-HSA-1793186

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

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IDUA) hydrolyses the unsulfated alpha-L-iduronosidic link in DS

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The lysosomal enzyme alpha-L-iduronidase (IDUA) hydrolyzes the nonreducing terminal iduronide glycosidic bond in heparan sulfate and dermatan sulfate (Scott et al. 1991). Defects in IDUA cause mucopolysaccharidosis type IH (MIM:607014, also called Hurler syndrome), mucopolysaccharidosis type IH/S (MIM:607015, also called HurlerScheie syndrome) and mucopolysaccharidosis type IS (MIM:607016, also called Scheie syndrome) (Scott et al. 1993).

Literature References

PubMed ID	Title	Journal	Year
8213840	Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes Scott, HS, Litjens, T, Nelson, PV, Thompson, PR, Brooks, DA, Hopwood, JJ, Morris, CP	Am J Hum Genet	1993
1946389	Human alpha-L-iduronidase: cDNA isolation and expression Scott, HS, Anson, DS, Orsborn, AM, Nelson, PV, Clements, PR, Morris, CP, Hopwood, JJ	Proc Natl Acad Sci U S A	1991