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Encyclopedia > Factor IX

Factor IX (or Christmas factor or Christmas-Eve factor) is one of the serine proteases (EC 3.4.21.22  (http://www.expasy.org/cgi-bin/nicezyme.pl?3.4.21.22)) of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes hemophilia B. In biochemistry, a serine proteases or serine endopeptidases (newer name) are a class of peptidases which are characterised by the presence of a serine residue in the active center of the enzyme. ... EC numbers (Enzyme Commission numbers) are a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ... Coagulation is the thickening or congealing of any liquid into solid clots. ... Haemophilia B (also spelled Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene. ...

Contents

Physiology

Factor IX is inactive unless activated by factor XIa (of the contact pathway) or factor VIIa (of the tissue factor pathway). When activated into factor IXa, it acts by hydrolysing one arginine-isoleucine bond in factor X to form factor Xa. It requires calcium, membrane phospholipids, and factor VIII as cofactors to do so. Factor XI or plasma thromboplastin antecent is one of the enzymes ( EC 3. ... Factor VII (old name proconvertin) is one of the central proteins in the coagulation cascade. ... Arginine Arginine is one of the 20 most common natural amino acids. ... Isoleucine is one of the 20 most common natural amino acids, and coded for in DNA. Its chemical composition is identical to that of leucine, but the arrangement of its atoms is slightly different resulting in different properties. ... Factor X, also known by the eponym Stuart-Prower factor or as thrombokinase, is an enzyme ( EC 3. ... Calcium plays a vital role in the biochemistry of the cell, particularly in signal transduction pathways. ... Two schematic representations of a phospholipid. ... Factor VIII (FVIII) is an essential clotting factor. ... A cofactor is the following: In mathematics a cofactor is the minor of an element of a square matrix. ...


Genetics

The gene for factor IX is located on the X chromosome (Xq27.1-q27.2). This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ... The human X chromosome, is is one of the two chromosomes involved in the XY sex-determination system. ...


Role in disease

Deficiency of factor IX causes Christmas disease (hemophilia B). Over 100 mutations of factor IX have been described; some cause no symptoms, but many lead to a significant bleeding disorder. Haemophilia B (also spelled Hemophilia B or Hæmophilia B) is a blood clotting disorder caused by a mutation of the Factor IX gene. ...


External link

  • OMIM 306900  (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306900)


The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...

Cardiovascular system - Blood
Red blood cells - White blood cells - Platelets - Blood plasma
White blood cells
Granulocytes (Neutrophil granulocytes, Eosinophil granulocytes, Basophil granulocytes) - Lymphocytes - Monocytes
Coagulation
Coagulation factors: - Fibrin (I) - Thrombin (II) - FV - FVII - FVIII - FIX - FX - FXI - FXII - FXIII - HMWK - vWF - Tissue factor
Inhibitors: Antithrombin - Protein C - Protein S - Protein Z - ZPI - TFPI
Fibrinolysis: Plasmin - tPA/urokinase - PAI-1/2 - α2-AP - TAFI

 
 

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