2pe4: Difference between revisions
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{{STRUCTURE_2pe4| PDB=2pe4 | SCENE= }} | {{STRUCTURE_2pe4| PDB=2pe4 | SCENE= }} | ||
===Structure of Human Hyaluronidase 1, a Hyaluronan Hydrolyzing Enzyme Involved in Tumor Growth and Angiogenesis=== | |||
{{ABSTRACT_PUBMED_17503783}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/HYAL1_HUMAN HYAL1_HUMAN]] Defects in HYAL1 are the cause of mucopolysaccharidosis type 9 (MPS9) [MIM:[http://omim.org/entry/601492 601492]]; also called hyaluronidase deficiency. MPS9 is a lysosomal storage disease characterized by high hyaluronan (HA) 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.<ref>PMID:10339581</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/HYAL1_HUMAN HYAL1_HUMAN]] May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth.<ref>PMID:12084718</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:017503783</ref><references group="xtra"/> | <ref group="xtra">PMID:017503783</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hyaluronoglucosaminidase]] | [[Category: Hyaluronoglucosaminidase]] | ||
