Factor IX
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| Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
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| PDB rendering based on 1cfh. | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | F9; FIX; GLA domain; HEMB; MGC129641; MGC129642; PTC | |||||||||||||
| External IDs | OMIM: 306900 MGI: 88384 Homologene: 106 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2158 | 14071 | ||||||||||||
| Ensembl | ENSG00000101981 | ENSMUSG00000031138 | ||||||||||||
| Uniprot | P00740 | A0JLY3 | ||||||||||||
| Refseq | NM_000133 (mRNA) NP_000124 (protein) | NM_007979 (mRNA) NP_032005 (protein) | ||||||||||||
| Location | Chr X: 138.44 - 138.47 Mb | Chr X: 56.35 - 56.38 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
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Factor IX (or Christmas factor) is one of the serine proteases (EC 3.4.21.22) of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes hemophilia B. It was discovered after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to hemophilia, in 1952.[1]
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.
Genetics
The gene for factor IX is located on the X chromosome (Xq27.1-q27.2). It was first cloned in 1982 by Kotoku Kurachi and Earl Davie.[1]
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.
References
Further reading
- Davie EW, Fujikawa K (1975). "Basic mechanisms in blood coagulation.". Annu. Rev. Biochem. 44: 799-829. doi:10.1146/annurev.bi.44.070175.004055. PMID 237463.
- Sommer SS (1992). "Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.". FASEB J. 6 (10): 2767-74. PMID 1634040.
- Lenting PJ, van Mourik JA, Mertens K (1999). "The life cycle of coagulation factor VIII in view of its structure and function.". Blood 92 (11): 3983-96. PMID 9834200.
- Lowe GD (2002). "Factor IX and thrombosis.". Br. J. Haematol. 115 (3): 507-13. PMID 11736930.
- O'Connell NM (2004). "Factor XI deficiency--from molecular genetics to clinical management.". Blood Coagul. Fibrinolysis 14 Suppl 1: S59-64. PMID 14567539.
- Du X (2007). "Signaling and regulation of the platelet glycoprotein Ib-IX-V complex.". Curr. Opin. Hematol. 14 (3): 262-9. doi:10.1097/MOH.0b013e3280dce51a. PMID 17414217.
Proteins: coagulation | |
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| Coagulation factors | intrinsic pathway (FXII, FXI, FIX, FVIII) - extrinsic pathway (Tissue factor, FVII) - common pathway (FX, FV, (Pro)thrombin / FII, Fibrin / FI, FXIII) - HMWK - vWF - Kallikrein |
| Inhibitors | Antithrombin - Protein C - Protein S - Protein Z - ZPI - TFPI |
| Fibrinolysis | Plasmin - tPA/urokinase - PAI-1/2 - α2-AP - α2-macroglobulin - TAFI |
Antihemorrhagics (B02) | |
|---|---|
| Antifibrinolytics | amino acids (Aminocaproic acid, Tranexamic acid, Aminomethylbenzoic acid) - serpins (Aprotinin, Alfa1 antitrypsin, C1-inhibitor, Camostat) |
| Vitamin K | Phytomenadione - Menadione |
| Fibrinogen | Fibrinogen |
| Local hemostatics | Absorbable gelatin sponge - Oxidized cellulose - Tetragalacturonic acid hydroxymethylester - Adrenalone - Thrombin - Collagen - Calcium alginate - Epinephrine |
| Blood coagulation factors | IX - II - VII - X - VIII - Eptacog alfa - Nonacog alfa - Thrombin |
| Other systemic hemostatics | Etamsylate - Carbazochrome - Batroxobin |
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
