Hyaluronidase-1 (HYAL1) Human Recombinant Protein

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]

HYAL1: May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. Defects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9); also called hyaluronidase deficiency. MPS9 is a lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum. The clinical features are periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement. Belongs to the glycosyl hydrolase 56 family. 7 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted; Glycan Metabolism - glycosaminoglycan degradation; Secreted, signal peptide; Hydrolase; EC 3.2.1.35

Chromosomal Location of Human Ortholog: 3p21.31

Cellular Component: cytoplasm; cytoplasmic vesicle; extracellular space; lysosomal lumen; lysosome

Molecular Function: hyaluronan synthase activity; hyalurononglucosaminidase activity; transcription factor binding; viral receptor activity

Biological Process: carbohydrate metabolic process; cartilage development; chondroitin sulfate catabolic process; chondroitin sulfate metabolic process; glycosaminoglycan metabolic process; hyaluronan biosynthetic process; hyaluronan catabolic process; hyaluronan metabolic process; inflammatory response; negative regulation of cell growth; positive regulation of angiogenesis; positive regulation of cell adhesion; positive regulation of cell growth; positive regulation of epithelial cell proliferation; positive regulation of growth; response to antibiotic; response to reactive oxygen species; response to virus

Disease: Mucopolysaccharidosis, Type Ix