3fby: Difference between revisions
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{{STRUCTURE_3fby| PDB=3fby | SCENE= }} | {{STRUCTURE_3fby| PDB=3fby | SCENE= }} | ||
===The crystal structure of the signature domain of cartilage oligomeric matrix protein.=== | |||
{{ABSTRACT_PUBMED_19276170}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/COMP_HUMAN COMP_HUMAN]] Defects in COMP are the cause of multiple epiphyseal dysplasia type 1 (EDM1) [MIM:[http://omim.org/entry/132400 132400]]. EDM is a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDM is broadly categorized into the more severe Fairbank and the milder Ribbing types.<ref>PMID:11084047</ref><ref>PMID:7670472</ref><ref>PMID:9021009</ref><ref>PMID:9184241</ref><ref>PMID:9463320</ref><ref>PMID:9921895</ref><ref>PMID:9452026</ref><ref>PMID:11565064</ref><ref>PMID:21922596</ref> Defects in COMP are the cause of pseudoachondroplasia (PSACH) [MIM:[http://omim.org/entry/177170 177170]]. PSAC is a dominantly inherited chondrodysplasia characterized by short stature and early-onset osteoarthrosis. PSACH is more severe than EDM1 and is recognized in early childhood.<ref>PMID:10852928</ref><ref>PMID:11084047</ref><ref>PMID:7670472</ref><ref>PMID:9184241</ref><ref>PMID:9463320</ref><ref>PMID:9921895</ref><ref>PMID:9452026</ref><ref>PMID:21922596</ref><ref>PMID:7670471</ref><ref>PMID:9452063</ref><ref>PMID:11746045</ref><ref>PMID:11746044</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/COMP_HUMAN COMP_HUMAN]] May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity).<ref>PMID:16051604</ref><ref>PMID:16542502</ref><ref>PMID:17993464</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019276170</ref><references group="xtra"/> | <ref group="xtra">PMID:019276170</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Lawler, J.]] | [[Category: Lawler, J.]] | ||
