Discover

'Factor IX' (or 'Christmas factor' or 'Christmas-Eve factor') is one of the serine proteases () 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]

Contents

Physiology

Genetics

Role in disease

Reference

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.^[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.

Reference

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. Isolation and characterization of a cDNA coding for human factor IX, Kurachi K, Davie E, , , Proc Natl Acad Sci U S A, 1982