| Structural highlights
Disease
[TRPC6_HUMAN] Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis. The disease is caused by mutations affecting the gene represented in this entry.
Function
[TRPC6_HUMAN] Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion.[1] [2] [3]
References
- ↑ Heeringa SF, Moller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. A novel TRPC6 mutation that causes childhood FSGS. PLoS One. 2009 Nov 10;4(11):e7771. doi: 10.1371/journal.pone.0007771. PMID:19936226 doi:http://dx.doi.org/10.1371/journal.pone.0007771
- ↑ Hofstra JM, Lainez S, van Kuijk WH, Schoots J, Baltissen MP, Hoefsloot LH, Knoers NV, Berden JH, Bindels RJ, van der Vlag J, Hoenderop JG, Wetzels JF, Nijenhuis T. New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis. Nephrol Dial Transplant. 2013 Jul;28(7):1830-8. doi: 10.1093/ndt/gfs572. Epub, 2013 Jan 4. PMID:23291369 doi:http://dx.doi.org/10.1093/ndt/gfs572
- ↑ Riehle M, Buscher AK, Gohlke BO, Kassmann M, Kolatsi-Joannou M, Brasen JH, Nagel M, Becker JU, Winyard P, Hoyer PF, Preissner R, Krautwurst D, Gollasch M, Weber S, Harteneck C. TRPC6 G757D Loss-of-Function Mutation Associates with FSGS. J Am Soc Nephrol. 2016 Sep;27(9):2771-83. doi: 10.1681/ASN.2015030318. Epub 2016 , Feb 18. PMID:26892346 doi:http://dx.doi.org/10.1681/ASN.2015030318
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