Factor IX




Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
PDB rendering based on 1cfh.
Available structures: 1cfh, 1cfi, 1edm, 1ixa, 1j34, 1j35, 1mgx, 1nl0, 1rfn
Identifiers
Symbol(s) F9; FIX; GLA domain; HEMB; MGC129641; MGC129642; PTC
External IDs OMIM: 306900 MGI: 88384 Homologene: 106
RNA expression pattern

More reference expression data

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]

Factor IX (or Christmas factor) is one 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 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.[2]

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

  1. ^ Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. Christmas disease: a condition previously mistaken for haemophilia. Br Med J 1952;2:1378-1382. PMID 12997790.
  2. ^ Kurachi K, Davie E (1982). "Isolation and characterization of a cDNA coding for human factor IX". Proc Natl Acad Sci U S A 79 (21): 6461-4. PMID 6959130.

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.
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α2-macroglobulin - TAFI
v • d • e
Endopeptidases: Streptokinase - S1P
 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Factor_IX". A list of authors is available in Wikipedia.