6hg7: Difference between revisions

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 ==Crystal structure of a collagen II fragment containing the binding site of PEDF and COMP, (POG)4-LKG HRG FTG LQG-POG(4)==
-<StructureSection load='6hg7' size='340' side='right' caption='[[6hg7]], [[Resolution|resolution]] 1.00&Aring;' scene=''>
+<StructureSection load='6hg7' size='340' side='right'caption='[[6hg7]], [[Resolution|resolution]] 1.00&Aring;' scene=''>
 == Structural highlights ==
 <table><tr><td colspan='2'>[[6hg7]] is a 3 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=6HG7 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6HG7 FirstGlance]. <br>
-</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=NH2:AMINO+GROUP'>NH2</scene>, <scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
+</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=SO4:SULFATE+ION'>SO4</scene></td></tr>
-<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene>, <scene name='pdbligand=HYP:4-HYDROXYPROLINE'>HYP</scene></td></tr>
+<tr id='NonStdRes'><td class="sblockLbl"><b>[[Non-Standard_Residue|NonStd Res:]]</b></td><td class="sblockDat"><scene name='pdbligand=ACE:ACETYL+GROUP'>ACE</scene>, <scene name='pdbligand=HYP:4-HYDROXYPROLINE'>HYP</scene>, <scene name='pdbligand=NH2:AMINO+GROUP'>NH2</scene></td></tr>
 <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=6hg7 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6hg7 OCA], [http://pdbe.org/6hg7 PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=6hg7 RCSB], [http://www.ebi.ac.uk/pdbsum/6hg7 PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=6hg7 ProSAT]</span></td></tr>
 </table>
+== Disease ==
+[[http://www.uniprot.org/uniprot/CO2A1_HUMAN CO2A1_HUMAN]] Defects in COL2A1 are the cause of spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:[http://omim.org/entry/183900 183900]]. This disorder is characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.<ref>PMID:2543071</ref> <ref>PMID:2339128</ref> <ref>PMID:8325895</ref> <ref>PMID:8423604</ref> <ref>PMID:8019561</ref> <ref>PMID:7757086</ref> <ref>PMID:10678662</ref> <ref>PMID:11746045</ref>   Defects in COL2A1 are the cause of spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:[http://omim.org/entry/184250 184250]]. A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones.[:]<ref>PMID:7550321</ref> <ref>PMID:16088915</ref>   Defects in COL2A1 are the cause of achondrogenesis type 2 (ACG2) [MIM:[http://omim.org/entry/200610 200610]]; also known as achondrogenesis-hypochondrogenesis type II. ACG2 is a disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.<ref>PMID:7757086</ref> <ref>PMID:2572591</ref> <ref>PMID:7757081</ref> <ref>PMID:7829510</ref> <ref>PMID:10797431</ref> <ref>PMID:10745044</ref> <ref>PMID:17994563</ref>   Defects in COL2A1 are the cause of Legg-Calve-Perthes disease (LCPD) [MIM:[http://omim.org/entry/150600 150600]]; also known as Legg-Perthes disease or Perthes disease. LCPD is characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone.<ref>PMID:17394019</ref>   Defects in COL2A1 are the cause of Kniest dysplasia (KD) [MIM:[http://omim.org/entry/156550 156550]]; also known as Kniest syndrome or metatropic dwarfism type II. KD is a moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.<ref>PMID:7874117</ref> <ref>PMID:8863156</ref>   Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH) [MIM:[http://omim.org/entry/608805 608805]]; also known as ischemic necrosis of the femoral head or osteonecrosis of the femoral head. ANFH causes disability that often requires surgical intervention. Most cases are sporadic, but families in which there is an autosomal dominant inheritance of the disease have been identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH. Approximately 15,000 new cases of this common and disabling disorder are reported annually. The age at the onset is earlier than that for osteoarthritis. The diagnosis is typically made when patients are between the ages of 30 and 60 years. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in the United States involve patients with ANFH. As a result, this disease creates a substantial socioeconomic cost as well as a burden for patients and their families.<ref>PMID:15930420</ref>   Defects in COL2A1 are the cause of osteoarthritis with mild chondrodysplasia (OACD) [MIM:[http://omim.org/entry/604864 604864]]. Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. Some forms of osteoarthritis are secondary to events such as trauma, infections, metabolic disorders, or congenital or heritable conditions that deform the epiphyses or related structures. In most patients, however, there is no readily identifiable cause of osteoarthritis. Inheritance in a Mendelian dominant manner has been demonstrated in some families with primary generalized osteoarthritis. Reports demonstrate coinheritance of primary generalized osteoarthritis with specific alleles of the gene COL2A1, the precursor of the major protein of cartilage.<ref>PMID:7757086</ref> <ref>PMID:1975693</ref> <ref>PMID:1985108</ref> <ref>PMID:8507190</ref>   Defects in COL2A1 are the cause of platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:[http://omim.org/entry/151210 151210]]. Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported.<ref>PMID:10745044</ref> <ref>PMID:14729840</ref> <ref>PMID:15643621</ref>   Defects in COL2A1 are the cause of multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:[http://omim.org/entry/132450 132450]]. Multiple epiphyseal dysplasia 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. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness.<ref>PMID:9800905</ref>   Defects in COL2A1 are the cause of spondyloperipheral dysplasia (SPD) [MIM:[http://omim.org/entry/271700 271700]]. SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly.  Defects in COL2A1 are the cause of Stickler syndrome type 1 (STL1) [MIM:[http://omim.org/entry/108300 108300]]; also known as vitreous type 1, or membranous vitreous type. STL1 is an autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.<ref>PMID:8317498</ref> <ref>PMID:7977371</ref> <ref>PMID:11007540</ref> <ref>PMID:16752401</ref> <ref>PMID:17721977</ref> <ref>PMID:20513134</ref>   Defects in COL2A1 are the cause of Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:[http://omim.org/entry/609508 609508]]. STL1O is an autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in STL1 such as cataract, myopia, retinal detachment. STL1 systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild in STL1O patients.  Defects in COL2A1 are a cause of rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:[http://omim.org/entry/609508 609508]]. Rhegmatogenous retinal detachment most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated.<ref>PMID:11007540</ref> <ref>PMID:15671297</ref>   Defects in COL2A1 are the cause of Czech dysplasia (CZECHD) [MIM:[http://omim.org/entry/609162 609162]]. A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes.<ref>PMID:7757086</ref> <ref>PMID:8244341</ref> <ref>PMID:18553548</ref> <ref>PMID:19764028</ref>
+== Function ==
+[[http://www.uniprot.org/uniprot/CO2A1_HUMAN CO2A1_HUMAN]] Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.
 <div style="background-color:#fffaf0;">
 == Publication Abstract from PubMed ==
@@ Line 21: / Line 25: @@
 __TOC__
 </StructureSection>
+[[Category: Large Structures]]
 [[Category: Baumann, U]]
 [[Category: Dietmar, H]]