Defective HYAL1 does not hydrolyse Chondroitin chains

Stable Identifier
R-HSA-2318585
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

Hyaluronidase 1 (HYAL1) hydrolyses 1-4 linkages between GalNAc and D-glucuronate residues in chondroitin (or dermatan). It also hydrolyses this linkage in hyaluronate, another glycosaminoglycan (GAG) composed of repeating disaccharide units but the only one which is non-sulfated. Defects in HYAL1 (MIM:607071) cause mucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492), a rare lysosomal storage disease. Triggs-Raine et al. identified a patient with two mutations in HYAL1 alleles, a nonconservative amino acid substitution (Glu268Lys) and a complex intragenic rearrangement (1361del37ins14) that results in a premature termination codon (Triggs-Raine et al. 1999).

Literature References
PubMed ID Title Journal Year
10339581 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

Triggs-Raine, B, Salo, TJ, Zhang, H, Wicklow, BA, Natowicz, MR

Proc. Natl. Acad. Sci. U.S.A. 1999
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
hyalurononglucosaminidase activity of HYAL1 E268K/V251_V262delinsFRVA Q263fs*20 [lysosomal lumen]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
mucopolysaccharidosis 12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Authored
Reviewed
Created
Cite Us!