HYAL1 gene

hyaluronoglucosaminidase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.

From NCBI Gene:

  • Deficiency of hyaluronoglucosaminidase

From UniProt:

Mucopolysaccharidosis 9 (MPS9): A lysosomal storage disease characterized by high hyaluronan 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. [MIM:601492]

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 50,299,889 to 50,312,951 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • HYAL-1
  • LUCA1
  • MPS9
  • NAT6