Sandbox Reserved 1482: Difference between revisions
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== '''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> | '''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" />. | ||
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====Ligands==== | ====Ligands==== | ||
Alpha-D-mannose, calcium ion (Ca<sup>2+</sup>), copper ion (Cu<sup>2+</sup>) and N- | 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" />. | ||
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====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, | 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" />. | ||