HYAL2

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Hyaluronidase-2 is an enzyme that in humans is encoded by the HYAL2 gene.[1][2][3]

This gene encodes a protein which is similar in structure to hyaluronidases. 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. Varying functions have been described for this protein. It has been described as a lysosomal hyaluronidase which is active at a pH below 4 and specifically hydrolyzes high molecular weight hyaluronan. It has also been described as a GPI-anchored cell surface protein which does not display hyaluronidase activity but does serve as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[3]

One study found associations between cleft lip and palate and mutations in the HYAL2 gene.[4]

References

  1. Lepperdinger G, Strobl B, Kreil G (Sep 1998). "HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity". J Biol Chem. 273 (35): 22466–70. doi:10.1074/jbc.273.35.22466. PMID 9712871.
  2. Strobl B, Wechselberger C, Beier DR, Lepperdinger G (Dec 1998). "Structural organization and chromosomal localization of Hyal2, a gene encoding a lysosomal hyaluronidase". Genomics. 53 (2): 214–9. doi:10.1006/geno.1998.5472. PMID 9790770.
  3. 3.0 3.1 "Entrez Gene: HYAL2 hyaluronoglucosaminidase 2".
  4. Sandoiu, Ana (2017-01-17). "Scientists find genetic mutation that causes cleft lip and palate, heart defects". Medical News Today. Retrieved 2017-01-31.

Further reading