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F9

F9 (Coagulation factor IX) 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.
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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