Aliases for HYAL1 Gene
External Ids for HYAL1 Gene
Previous GeneCards Identifiers for HYAL1 Gene
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]
GeneCards Summary for HYAL1 Gene
HYAL1 (Hyaluronoglucosaminidase 1) is a Protein Coding gene. Diseases associated with HYAL1 include Mucopolysaccharidosis Type Ix and Mucopolysaccharidosis. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and Glycosaminoglycan metabolism. GO annotations related to this gene include transcription factor binding and hyalurononglucosaminidase activity. An important paralog of this gene is HYAL2.
UniProtKB/Swiss-Prot for HYAL1 Gene
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.