Scientific background: |
Hyaluronidase-1, also known as HYAL1 or LUCA1, is an enzyme that in humans is encoded by the HYAL1 gene. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. 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. |
References: |
1. Csoka, A. B., Frost, G. I., Heng, H. H. Q., Scherer, S. W., Mohapatra, G., Stern, R. The hyaluronidase gene HYAL1 maps to chromosome 3p21.2-p21.3 in human and 9F1-F2 in mouse, a conserved candidate tumor suppressor locus. Genomics 48: 63-70, 1998. Note: Erratum: Genomics 84: 227 only, 2004.
2. Martin, D. C., Atmuri, V., Hemming, R. J., Farley, J., Mort, J. S., Byers, S., Hombach-Klonisch, S., Csoka, A. B., Stern, R., Triggs-Raine, B. L. A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. Hum. Molec. Genet. 17: 1904-1915, 2008. Note: Erratum: Hum. Molec. Genet. 17: 2919 only, 2008.
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