1cn4: Difference between revisions
No edit summary |
No edit summary |
||
| Line 3: | Line 3: | ||
== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1cn4]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1blw 1blw]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1CN4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1CN4 FirstGlance]. <br> | <table><tr><td colspan='2'>[[1cn4]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. This structure supersedes the now removed PDB entry [http://oca.weizmann.ac.il/oca-bin/send-pdb?obs=1&id=1blw 1blw]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1CN4 OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1CN4 FirstGlance]. <br> | ||
</td></tr><tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1cn4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1cn4 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1cn4 RCSB], [http://www.ebi.ac.uk/pdbsum/1cn4 PDBsum]</span></td></tr> | </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=1cn4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1cn4 OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1cn4 RCSB], [http://www.ebi.ac.uk/pdbsum/1cn4 PDBsum]</span></td></tr> | ||
<table> | </table> | ||
== Disease == | == Disease == | ||
[[http://www.uniprot.org/uniprot/EPOR_HUMAN EPOR_HUMAN]] Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:[http://omim.org/entry/133100 133100]]. ECYT1 is an autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia.<ref>PMID:8506290</ref> <ref>PMID:8174675</ref> <ref>PMID:8608241</ref> [[http://www.uniprot.org/uniprot/EPO_HUMAN EPO_HUMAN]] Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2 (MVCD2) [MIM:[http://omim.org/entry/612623 612623]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. | [[http://www.uniprot.org/uniprot/EPOR_HUMAN EPOR_HUMAN]] Defects in EPOR are the cause of familial erythrocytosis type 1 (ECYT1) [MIM:[http://omim.org/entry/133100 133100]]. ECYT1 is an autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia.<ref>PMID:8506290</ref> <ref>PMID:8174675</ref> <ref>PMID:8608241</ref> [[http://www.uniprot.org/uniprot/EPO_HUMAN EPO_HUMAN]] Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2 (MVCD2) [MIM:[http://omim.org/entry/612623 612623]]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. | ||
| Line 32: | Line 32: | ||
</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Reid, S W | [[Category: Reid, S W]] | ||
[[Category: Stroud, R M | [[Category: Stroud, R M]] | ||
[[Category: Cytokine receptor]] | [[Category: Cytokine receptor]] | ||
[[Category: Hematopoietic cytokine]] | [[Category: Hematopoietic cytokine]] | ||