hyaluronoglucosaminidase 1

Symbol

HYAL1 (may also be known as: None)

Organism

Human

Description

This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Orthologs

SymbolSpecies
Hyal1 Mus musculus
Hyal1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0005975 carbohydrate metabolic process biological_process
GO:0008219 cell death biological_process
GO:0008285 negative regulation of cell proliferation biological_process
GO:0030214 hyaluronan catabolic process biological_process
GO:0005576 extracellular region cellular_component
GO:0005615 extracellular space cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005764 lysosome cellular_component
GO:0003824 catalytic activity molecular_function
GO:0004415 hyalurononglucosaminidase activity molecular_function
GO:0016798 hydrolase activity, acting on glycosyl bonds molecular_function