Defective HYAL1 does not hydrolyse Chondroitin chains

Stable Identifier
R-HSA-2318585
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
ReviewStatus
5/5
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Defective HYAL1 does not hydrolyse Chondroitin chains
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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

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

Proc. Natl. Acad. Sci. U.S.A. 1999
Participants
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as an event of
Catalyst Activity

hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen]

Physical Entity
HYAL1 mutants [lysosomal lumen] (Homo sapiens)
Activity
hyalurononglucosaminidase activity (GO:0004415)
Normal reaction
HYAL1 hydrolyses Chondroitin chains (Homo sapiens)
Functional status

Loss of function of HYAL1 mutants [lysosomal lumen]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Authored
Jassal, B  (2012-06-14)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-06-14)
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