1sht: Difference between revisions
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{{STRUCTURE_1sht| PDB=1sht | SCENE= }} | {{STRUCTURE_1sht| PDB=1sht | SCENE= }} | ||
===Crystal Structure of the von Willebrand factor A domain of human capillary morphogenesis protein 2: an anthrax toxin receptor=== | |||
{{ABSTRACT_PUBMED_15079089}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/ANTR2_HUMAN ANTR2_HUMAN]] Defects in ANTXR2 are the cause of infantile systemic hyalinosis (ISH) [MIM:[http://omim.org/entry/236490 236490]]. This autosomal recessive syndrome is similar to JHF, but has an earlier onset and a more severe course. Symptoms appear at birth or within the first months of life, with painful, swollen joint contractures, osteopenia, osteoporosis and livid red hyperpigmentation over bony prominences. Patients develop multiple subcutaneous skin tumors and gingival hypertrophy. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to death within the first 2 years of life. Surviving children may suffer from severely reduced mobility due to joint contractures.<ref>PMID:12973667</ref><ref>PMID:14508707</ref> Defects in ANTXR2 are the cause of juvenile hyaline fibromatosis (JHF) [MIM:[http://omim.org/entry/228600 228600]]. JHF is an autosomal recessive syndrome that is similar to ISH but takes a milder course. It is characterized by hyaline deposition in the dermis, multiple subcutaneous skin tumors and gingival hypertrophy, followed by progressive joint contractions, osteopenia and osteoporosis that may lead to a severe limitation of mobility.<ref>PMID:12973667</ref><ref>PMID:14508707</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/ANTR2_HUMAN ANTR2_HUMAN]] Necessary for cellular interactions with laminin and the extracellular matrix.<ref>PMID:11683410</ref><ref>PMID:12973667</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015079089</ref><references group="xtra"/> | <ref group="xtra">PMID:015079089</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Collier, R J.]] | [[Category: Collier, R J.]] | ||
