Entrez gene ID | | 3373 |
Official gene symbol | | HYAL1 |
Full name | | hyaluronoglucosaminidase 1 |
Aliases | | ,HYAL-1,LUCA1,MGC45987,NAT6, |
Gene summary | | 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] |
Location | | Chromosome: 3 Locus: 3p21.3-p21.2 |
Gene position | | 50349812 - 50337320 Map Viewer |
Gene orientation | | minus |
Gene size | | 12493 bp |
Gene sequence |
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OMIM ID | | 607071 |