4bzy
From Proteopedia
(Difference between revisions)
| Line 1: | Line 1: | ||
| - | + | ==Crystal structure of human glycogen branching enzyme (GBE1)== | |
| - | + | <StructureSection load='4bzy' size='340' side='right' caption='[[4bzy]], [[Resolution|resolution]] 2.75Å' scene=''> | |
| - | + | == Structural highlights == | |
| - | ==Disease== | + | <table><tr><td colspan='2'>[[4bzy]] is a 3 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4BZY OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=4BZY FirstGlance]. <br> |
| + | </td></tr><tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/1,4-alpha-glucan_branching_enzyme 1,4-alpha-glucan branching enzyme], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=2.4.1.18 2.4.1.18] </span></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=4bzy FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=4bzy OCA], [http://www.rcsb.org/pdb/explore.do?structureId=4bzy RCSB], [http://www.ebi.ac.uk/pdbsum/4bzy PDBsum]</span></td></tr> | ||
| + | </table> | ||
| + | == Disease == | ||
[[http://www.uniprot.org/uniprot/GLGB_HUMAN GLGB_HUMAN]] Adult polyglucosan body disease;Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form;Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form. The disease is caused by mutations affecting the gene represented in this entry. Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. The disease is caused by mutations affecting the gene represented in this entry. | [[http://www.uniprot.org/uniprot/GLGB_HUMAN GLGB_HUMAN]] Adult polyglucosan body disease;Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form;Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form;Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form;Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form. The disease is caused by mutations affecting the gene represented in this entry. Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. The disease is caused by mutations affecting the gene represented in this entry. | ||
| - | + | == Function == | |
| - | ==Function== | + | |
[[http://www.uniprot.org/uniprot/GLGB_HUMAN GLGB_HUMAN]] Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. | [[http://www.uniprot.org/uniprot/GLGB_HUMAN GLGB_HUMAN]] Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells. | ||
| - | + | __TOC__ | |
| - | + | </StructureSection> | |
| - | + | ||
[[Category: 1,4-alpha-glucan branching enzyme]] | [[Category: 1,4-alpha-glucan branching enzyme]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Arrowsmith, C H | + | [[Category: Arrowsmith, C H]] |
| - | [[Category: Bountra, C | + | [[Category: Bountra, C]] |
| - | [[Category: Burgess-Brown, N | + | [[Category: Burgess-Brown, N]] |
| - | [[Category: Delft, F von | + | [[Category: Delft, F von]] |
| - | [[Category: Edwards, A | + | [[Category: Edwards, A]] |
| - | [[Category: Froese, D S | + | [[Category: Froese, D S]] |
| - | [[Category: Goubin, S | + | [[Category: Goubin, S]] |
| - | [[Category: Krojer, T | + | [[Category: Krojer, T]] |
| - | [[Category: Mahajan, P | + | [[Category: Mahajan, P]] |
| - | [[Category: Strain-Damerell, C | + | [[Category: Strain-Damerell, C]] |
| - | [[Category: Yue, W W | + | [[Category: Yue, W W]] |
[[Category: Transferase]] | [[Category: Transferase]] | ||
Revision as of 13:46, 4 January 2015
Crystal structure of human glycogen branching enzyme (GBE1)
| |||||||||||
