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F9 Gene
Definition and Synonyms

Definition: Expressed primarily in the liver, human F9 Gene (Peptidase S1 Family) encodes 461-aa 52-kDa (precursor) Coagulation Factor IX, a vitamin K-dependent plasma protein involved in the intrinsic blood coagulation cascade that contains 2 EGF-like domains and circulates as an inactive zymogen. Gamma-carboxyglutamic acid residues bind calcium. Factor IX is converted to active form by Factor XIa, which excises the activation peptide and generates the disulfide-bound light and heavy chains. Through interaction with Ca(2+), membrane phospholipids, and Factor VIIIa, activated Factor IX converts Factor X to its active Xa form by hydrolyzing one Arg-Ile bond. F9 point mutation, insertion, and deletion defects cause hemophilia B. (NCI)

Synonyms: F9 Gene, F9, FIX, HEMB, PTC

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