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| - | Scott syndrome | + | Scott syndrome is a rare human disease caused by a mutation that affects TMEM16 proteins and results in the inability to form platelets correctly. |
== Relevance == | == Relevance == | ||
Revision as of 21:17, 20 February 2018
Contents |
Structure
|
Function
Platlet formation/clotting
Phospholipid movement
Apoptosis
Disease
Scott syndrome is a rare human disease caused by a mutation that affects TMEM16 proteins and results in the inability to form platelets correctly.
Relevance
Structural highlights
This protein prefers to form homodimers, which means that the complex is made of two identical chains of itself.
There are multiple sites where calcium ions can bind.
Once Ca ions bind to these sites, the chloride channel can open.
References
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737519/ https://www.rcsb.org/pdb/protein/C7Z7K1?addPDB=4WIS
