2y4q: Difference between revisions
From Proteopedia
Jump to navigationJump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_2y4q| PDB=2y4q | SCENE= }} | {{STRUCTURE_2y4q| PDB=2y4q | SCENE= }} | ||
===SOLUTION STRUCTURE OF THE EF-HAND DOMAIN OF HUMAN POLYCYSTIN 2=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/PKD2_HUMAN PKD2_HUMAN]] Defects in PKD2 are the cause of polycystic kidney disease 2 (PKD2) [MIM:[http://omim.org/entry/613095 613095]]. PKD2 is a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy.<ref>PMID:9326320</ref><ref>PMID:10541293</ref><ref>PMID:10411676</ref><ref>PMID:10835625</ref><ref>PMID:11968093</ref><ref>PMID:12707387</ref><ref>PMID:14993477</ref><ref>PMID:15772804</ref><ref>PMID:21115670</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/PKD2_HUMAN PKD2_HUMAN]] Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium (By similarity). PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis (By similarity). Acts as a regulator of cilium length, together with PKD1 (By similarity). The dynamic control of cilium length is essential in the regulation of mechanotransductive signaling. The cilium length response creates a negative feedback loop whereby fluid shear-mediated deflection of the primary cilium, which decreases intracellular cAMP, leads to cilium shortening and thus decreases flow-induced signaling (By similarity). Functions as a calcium permeable cation channel. | |||
==About this Structure== | ==About this Structure== | ||
[[2y4q]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2Y4Q OCA]. | [[2y4q]] is a 1 chain structure. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2Y4Q OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Allen, M D.]] | [[Category: Allen, M D.]] | ||
[[Category: Qamar, S.]] | [[Category: Qamar, S.]] | ||
[[Category: Sandford, R N.]] | [[Category: Sandford, R N.]] | ||
[[Category: Transport protein]] | [[Category: Transport protein]] | ||
