Hyaluronidase 1 gene is mapped on chromosome 3p21.3 belongs to the glycosyl hydrolase family which contains EGF-like domain that intracellularly degrade hyaluronan. It has a four alternative spliced variants isoforms that reveals a crystal structure molecules composed of a catalytic domain and EGF-like domain involved in protein-protein regulatory processes in which these variants functions in competing with full length enzymes for putative protein partner and regulates enzymatic activity in healthy cells.
Hyaluronidase 1 is predominantly expressed in kidney, liver and heart while weakly expressed in placenta, lung and skeletal muscle that is active in acidic pH and is major hyaluronidase in plasma. It is implicated in cancer angiogenesis, proliferation andinflammatory diseases wherein its expression is upregulated in complex stages of bladder cancer.
Hyaluronidase 1 gene mutation is linked with mucopolysaccharidosis 9 a lysosomal disease typified by high amount of hyaluronan in the serum which is manifested by periarticular soft tissues masses, acetabular erosions, mild short stature and absence of neurological involvement.
Gene name: HYAL1
Protein name: Hyaluronidase-1