Gene: HYAL1

Alternate names for this Gene: HYAL-1|LUCA1|MPS9|NAT6

Gene Summary: 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. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.31

Description of this Gene: hyaluronidase 1

Type of Gene: protein-coding

rs104893743 in HYAL1 gene and Hyaluronidase Deficiency PMID 10339581 1999 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.

rs11130248 in HYAL1 gene and Keloid PMID 20711176 2010 A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population.