Defective HYAL1 does not hydrolyse (HA)50

Stable Identifier
R-HSA-9036077
Type
Reaction [transition]
Species
Homo sapiens
Compartment
lysosomal lumen
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective HYAL1 does not hydrolyse (HA)50
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
In the acidic environment of the lysosome, hyaluronidase 1 (HYAL1) is able to hydrolyse large 20kDa HA fragments (approximately 50 disaccharide units) to 800 Da fragments (2 disaccharide units). 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, that is HYAL1 E268K) and a complex intragenic rearrangement (1361del37ins14, that is HYAL1 V251Ffs*20) 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
Input
Participates
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 (HA)50 (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)
Cite Us!