Sandbox Reserved 1482: Difference between revisions

From Proteopedia
Jump to navigationJump to search
No edit summary
No edit summary
Line 1: Line 1:
== '''Coagulation Factor VIII (3cdz)''' ==
== '''Coagulation Factor VIII (3cdz)''' ==
<StructureSection load='3cdz' size='340' side='right' caption='The human coagulation factor VIII' scene=''>
<StructureSection load='3cdz' size='340' side='right' caption='The human coagulation factor VIII' scene=''>
'''The human Factor VIII''', also known as anti-hemophilic factor (AHF), is an essential blood-clotting protein <ref name="wikipedia">https://en.wikipedia.org/wiki/Factor_VIII [11.01.2019]</ref>. It consists of 2332 residues <ref name="Ngo">PMID: 18400180</ref>, whose gene is located on the X chromosome <ref name="wikipedia" /><ref name="Antonarakis">PMID: 8578479</ref>.  
'''The human Factor VIII''', also known as anti-hemophilic factor (AHF), is an essential blood-clotting protein <ref name="wikipedia">https://en.wikipedia.org/wiki/Factor_VIII [11.01.2019]</ref>. It consists of 2332 residues <ref name="Ngo">PMID: 18400180</ref>. Its gene is located on the X chromosome <ref name="wikipedia" /><ref name="Antonarakis">PMID: 8578479</ref>.  


Factor VIII is produced inside the liver (by the sinusoidal cells) and outside (by the endothelial cells) and acts in the intrinsic pathway of blood coagulation <ref name="wikipedia" />. It is actually the lack or the deficiency of the factor VIII (which is a plasma glycoprotein) that causes a bleeding disorder: hemophilia A <ref name="Ngo" />.
Factor VIII is produced inside the liver (by the sinusoidal cells) and outside (by the endothelial cells) and acts in the intrinsic pathway of blood coagulation <ref name="wikipedia" />. It is actually the lack or the deficiency of the factor VIII (which is a plasma glycoprotein) that causes a bleeding disorder: hemophilia A <ref name="Ngo" />.
Line 65: Line 65:


====Ligands====
====Ligands====
Alpha-D-mannose, calcium ion (Ca<sup>2+</sup>), copper ion (Cu<sup>2+</sup>) and N-acetl-D-glucosamine are the four ligands the factor VIII is able to bind to <ref name="pdb" />.  
Alpha-D-mannose, calcium ion (Ca<sup>2+</sup>), copper ion (Cu<sup>2+</sup>) and N-acetyl-D-glucosamine are the four ligands the factor VIII is able to bind to <ref name="pdb" />.  
In factor VIII there are two copper ions and their binding sites are located internally within the <scene name='80/802656/A3cu/1'>A3</scene> and the <scene name='80/802656/A1/1'> A1 </scene> domain. In the latter, there is another ligand, a <scene name='80/802656/A1ca/1'>single calcium ion</scene>, bound to its binding site <ref name="Ngo" />.
In factor VIII there are two copper ions and their binding sites are located internally within the <scene name='80/802656/A3cu/1'>A3</scene> and the <scene name='80/802656/A1/1'> A1 </scene> domain. In the latter, there is another ligand, a <scene name='80/802656/A1ca/1'>single calcium ion</scene>, bound to its binding site <ref name="Ngo" />.


Line 83: Line 83:


====Inheritance====
====Inheritance====
Hemophilia A is inherited in an X-linked recessive manner. This means that if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. By contrast, daughters, even if they inherit one hemophilia allele, they can compensate it with their second healthy X chromosome. As a result, women only rarely have symptoms, but women that are carriers, may pass the gene on to their children (50% chance per pregnancy) <ref name="Konkle" />.
Hemophilia A is inherited in an X-linked recessive manner. This means that if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. By contrast, daughters, even if they inherit one hemophilia allele, can compensate it with their second healthy X chromosome. As a result, women only rarely have symptoms, but women that are carriers, may pass the gene on to their children (50% chance per pregnancy) <ref name="Konkle" />.