5wtb

<table><tr><td colspan='2'>[[5wtb]] is a 8 chain structure. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=5WTB OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=5WTB FirstGlance]. <br>

</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[5wta|5wta]]</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=5wtb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=5wtb OCA], [http://pdbe.org/5wtb PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=5wtb RCSB], [http://www.ebi.ac.uk/pdbsum/5wtb PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=5wtb ProSAT]</span></td></tr>

== Disease ==

[[http://www.uniprot.org/uniprot/CFAH_HUMAN CFAH_HUMAN]] Genetic variations in CFH are associated with basal laminar drusen (BLD) [MIM:[http://omim.org/entry/126700 126700]]; also known as drusen of Bruch membrane or cuticular drusen or grouped early adult-onset drusen. Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. Defects in CFH are the cause of complement factor H deficiency (CFHD) [MIM:[http://omim.org/entry/609814 609814]]. A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.<ref>PMID:9312129</ref> <ref>PMID:10803850</ref> <ref>PMID:11170895</ref> <ref>PMID:11170896</ref> <ref>PMID:11158219</ref> <ref>PMID:12020532</ref> <ref>PMID:14978182</ref> <ref>PMID:16612335</ref> Defects in CFH are a cause of susceptibility to hemolytic uremic syndrome atypical type 1 (AHUS1) [MIM:[http://omim.org/entry/235400 235400]]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. Other genes may play a role in modifying the phenotype.<ref>PMID:14978182</ref> <ref>PMID:9551389</ref> <ref>PMID:10577907</ref> <ref>PMID:10762557</ref> <ref>PMID:11851332</ref> <ref>PMID:14583443</ref> <ref>PMID:12960213</ref> <ref>PMID:20513133</ref> Genetic variation in CFH is associated with age-related macular degeneration type 4 (ARMD4) [MIM:[http://omim.org/entry/610698 610698]]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.<ref>PMID:22019782</ref>

[[http://www.uniprot.org/uniprot/SDRE_STAAM SDRE_STAAM]] Cell surface-associated protein causing human platelet aggregation. Appears to be involved in the aggregation of host platelets thus playing a role in infective endocarditis. May bind calcium (By similarity). [[http://www.uniprot.org/uniprot/CFAH_HUMAN CFAH_HUMAN]] Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.

[[Category: Hang, T]]

[[Category: Wang, C]]

[[Category: Wu, M]]

[[Category: Yang, Y]]

[[Category: Zang, J]]

[[Category: Zhang, M]]

[[Category: Zhang, X]]

[[Category: Zhang, Y]]

[[Category: Staphylococcus aureus]]