HYAL1
Function
May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.
Involvement in disease
Mucopolysaccharidosis 9
MPS9
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the glycosyl hydrolase 56 family.
Tissue Specificity
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.
Cellular localization
- Secreted
- Lysosome
Alternative names
LUCA1, HYAL1, Hyaluronidase-1, Hyal-1, Hyaluronoglucosaminidase-1, Lung carcinoma protein 1, LuCa-1