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

Stable Identifier
R-HSA-1793186
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
L-iduronidase activity of IDUA [lysosomal lumen]
Physical Entity
Activity
Orthologous Events
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Reviewed
Created