機能May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
組織特異性Highly 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.
関連疾患Defects 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.
配列類似性Belongs to the glycosyl hydrolase 56 family. Contains 1 EGF-like domain.