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Factor IX - Wikipedia, the free encyclopedia

Factor IX

From Wikipedia, the free encyclopedia

coagulation factor IX
Identifiers
Symbol F9
HUGO 3551
Entrez 2158
OMIM 306900
RefSeq NM_000133
UniProt P00740
Other data
EC number 3.4.21.22
Locus Chr. X q26.3-q27.1

Factor IX (or Christmas factor or Christmas-Eve 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.

Contents

[hide]

[edit] 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.

[edit] 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]

[edit] 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.

[edit] Reference

  1. ^ 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. 
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