File:PMC3598893 1471-2105-14-47-4 (1).png
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PMC3598893_1471-2105-14-47-4_(1).png (380 × 202 pixels, file size: 25 KB, MIME type: image/png)
Summary
Description |
English: F4: Liddle syndrome. Mutations in either SCNNB or SCNNG are associated with Liddle syndrome (disease group 772). Both are subunits of the heterotrimeric (alpha, beta, gamma) nonvoltage-gated, amiloride-sensitive, sodium channel. Both proteins were observed together with SCNN1A (the alpha subunit of the channel) as interactors with syntaxin 1A (STX1A). The original paper[32] contains evidence for a direct interaction between STX1A and the gamma subunit and for a complex that includes all four proteins using in-vitro translated components (Figure one in[32]). The complex is represented as four binary interactions in the BioGrid database. These interactions are identified as part of a potential spoke-represented complex by iRefScape (a grey hexagon appears after selecting View Tools/Show spoke-represented complexes from the iRefScape menu). |
Date | |
Source | https://openi.nlm.nih.gov/detailedresult?img=PMC3598893_1471-2105-14-47-4&query=Liddle%27s%20syndrome&it=xg&req=4&npos=1 |
Author | Mora A, Michalickova K, Donaldson IM |
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{{subst:Custom license marker added by UW}} https://creativecommons.org/licenses/by/2.0/ Attribution 2.0 Generic (CC BY 2.0)
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