HYAL2
Description
The HYAL2 (hyaluronidase 2) is a protein-coding gene located on chromosome 3.
Hyaluronidase-2 is a multifunctional protein, previously thought to only possess acid-active hyaluronan-degrading enzymatic function. In humans, it is encoded by the HYAL2 gene. 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. One study found associations between cleft lip and palate and mutations in the HYAL2 gene.
HYAL2 is also known as LUCA2.
Associated Diseases
- triatrial heart
- cleft lip/palate
- breast cancer
- bifid uvula
- cleft palate-lateral synechia syndrome
- cancer
- ankyloblepharon filiforme adnatum-cleft palate syndrome
- orofacial cleft 11
- orofacial cleft 10
- van der Woude syndrome
- orofacial cleft 5
- cleft palate with or without ankyloglossia, X-linked
- van der Woude syndrome 1
- Bencze syndrome
- schizophrenia
