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
| Symbol | Species | |
|---|---|---|
| Hyal1 | Mus musculus | |
| Hyal1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO 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 | |