Factor Ix
2 reference results for: Factor IX
Wikipedia
Factor IX (or Christmas 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.
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.Polly, a transgenic cloned Poll Dorset sheep carrying the gene for factor IX, was produced by Dr Ian Wilmut at the Roslin Institute in 1997.
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
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Last updated on Friday July 18, 2008 at 07:31:58 PDT (GMT -0700)
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This article is licensed under the GNU Free Documentation License.
Last updated on Friday July 18, 2008 at 07:31:58 PDT (GMT -0700)
View this article at Wikipedia.org - Edit this article at Wikipedia.org - Donate to the Wikimedia Foundation
Wikipedia
Factor IX (or Christmas 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.
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.Polly, a transgenic cloned Poll Dorset sheep carrying the gene for factor IX, was produced by Dr Ian Wilmut at the Roslin Institute in 1997.
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
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