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    For Research Use Only. Not For Clinical Use.


    Background

    This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing.
    Protein class

    Candidate cardiovascular disease genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins

    Predicted location

    Secreted

    Single cell type specificity

    Cell type enriched (Hepatocytes)

    Immune cell specificity

    Not detected in immune cells

    Cell line specificity

    Not detected

    Interaction

    Heterodimer of a light chain and a heavy chain; disulfide-linked (PubMed:20121198, 20121197, 20080729). Interacts with SERPINC1.

    Molecular function

    Hydrolase, Protease, Serine protease

    More Types Infomation
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