2pfi
From Proteopedia
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{{STRUCTURE_2pfi| PDB=2pfi | SCENE= }} | {{STRUCTURE_2pfi| PDB=2pfi | SCENE= }} | ||
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===Crystal structure of the cytoplasmic domain of the human chloride channel ClC-Ka=== | ===Crystal structure of the cytoplasmic domain of the human chloride channel ClC-Ka=== | ||
| + | {{ABSTRACT_PUBMED_17562318}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/CLCKA_HUMAN CLCKA_HUMAN]] Defects in CLCNKA are a cause of Bartter syndrome type 4B (BS4B) [MIM:[http://omim.org/entry/613090 613090]]. A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness.<ref>PMID:18310267</ref><ref>PMID:15044642</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/CLCKA_HUMAN CLCKA_HUMAN]] Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017562318</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017562318</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Dutzler, R.]] | [[Category: Dutzler, R.]] | ||
[[Category: Markovic, S.]] | [[Category: Markovic, S.]] | ||
[[Category: Transport protein]] | [[Category: Transport protein]] | ||
Revision as of 01:15, 25 March 2013
Contents |
Crystal structure of the cytoplasmic domain of the human chloride channel ClC-Ka
Template:ABSTRACT PUBMED 17562318
Disease
[CLCKA_HUMAN] Defects in CLCNKA are a cause of Bartter syndrome type 4B (BS4B) [MIM:613090]. A digenic, recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 4B is associated with sensorineural deafness.[1][2]
Function
[CLCKA_HUMAN] Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
About this Structure
2pfi is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Markovic S, Dutzler R. The structure of the cytoplasmic domain of the chloride channel ClC-Ka reveals a conserved interaction interface. Structure. 2007 Jun;15(6):715-25. PMID:17562318 doi:http://dx.doi.org/10.1016/j.str.2007.04.013
- ↑ Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944. PMID:18310267 doi:10.1136/jmg.2007.052944
- ↑ Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004 Mar 25;350(13):1314-9. PMID:15044642 doi:10.1056/NEJMoa032843
