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Gene : HYAL1 Homo sapiens

Name  ? hyaluronidase 1 Cytological Location  3p21.31
Brief Description  hyaluronidase 1
Description  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]
  • synonyms:
  • HYAL-1,
  • uc003czs.4,
  • NAT6,
  • MPS9,
  • HYAL-1,
  • HGNC:5320,
  • NM_033159,
  • LUCA1,
  • U90094,
  • HYAL1,
  • LUCA1,
  • hyaluronoglucosaminidase 1,
  • OTTHUMG00000156941
  • identifiers:
  • 3373,
  • ENSG00000114378,
  • HYAL1

Genome feature

Region: gene ? Length: 13063  
Location: 3:50299889-50312951 reverse strand Cyto location: 3p21.31

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results