FunctionMay have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
Tissue specificityHighly expressed in the liver, kidney and heart. Weakly expressed in lung, placenta and skeletal muscle. No expression detected in adult brain. Isoform 1 is expressed only in bladder and prostate cancer cells, G2/G3 bladder tumor tissues and lymph node specimens showing tumor invasive tumors cells. Isoform 3, isoform 4, isoform 5 and isoform 6 are expressed in normal bladder and bladder tumor tissues.
Involvement in diseaseDefects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9) [MIM:601492]; 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.
Sequence similaritiesBelongs to the glycosyl hydrolase 56 family. Contains 1 EGF-like domain.