Sandbox Reserved 1349
From Proteopedia
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{{Sandbox_Reserved_HLSC322}}<!-- PLEASE ADD YOUR CONTENT BELOW HERE --> | {{Sandbox_Reserved_HLSC322}}<!-- PLEASE ADD YOUR CONTENT BELOW HERE --> | ||
| - | =Coagulation Factor VIII= | + | =Coagulation Factor VIII (FVIII)= |
<StructureSection load='2r7e' size='340' side='right' caption='Coagulation Factor VIII structure.' scene=''> | <StructureSection load='2r7e' size='340' side='right' caption='Coagulation Factor VIII structure.' scene=''> | ||
===Structure=== | ===Structure=== | ||
===Genetics=== | ===Genetics=== | ||
| - | + | :FVIII is encoded by the ''F8'' gene, located on Xq28 (28th position on the q arm of the X chromosome). Mutations in this gene are associated with hemophilia A, a X-linked recessive disorder. There are 1,300 mutations associated with Hemophilia A in the F8 gene, ranging from single base substitutions to multi base indels. These mutations typically lower the concentration of or inactivate the FVIII protein. As it can no longer participate in the coagulation processes, blood clotting does not occur properly, leading to the excessive bleeding commonly seen in hemophilia. The severity of hemophilia depends largely on the mutation, with loss-of-function mutations resulting in more severe hemophilia than those lowing FVIII'c concentration. | |
===Function=== | ===Function=== | ||
Revision as of 20:44, 21 February 2018
| This Sandbox is Reserved from January through July 31, 2018 for use in the course HLSC322: Principles of Genetics and Genomics taught by Genevieve Houston-Ludlam at the University of Maryland, College Park, USA. This reservation includes Sandbox Reserved 1311 through Sandbox Reserved 1430. |
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Coagulation Factor VIII (FVIII)
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