Factor IX is a 55 kDa, single chain, vitamin K-dependent plasma zymogen. Factor IX is synthesized in liver parenchymal cells and requires a post-translational, vitamin K-dependent, modification in order to become a mature plasma zymogen. Factor IX concentration in human plasma ranges between 2.5-5 mg/ml and its half-life is ~24 hr. Human factor IX gene is about 40 kb in size and is localized at the distal end of the X-chromosome.
Four and a half LIM domains protein 1 is a protein encoded by the FHL1 gene in humans and is located on human chromosome Xq27.2. Factor IX (or Christmas factor) is one of the serine proteases of the coagulation system. It belongs to peptidase family S1 and its deficiency causes hemophilia B. The proteins belong to a novel family of LIM proteins that are expressed in human skeletal muscle. FHL1 gene is related to carcinogenesis and its inactivation is a frequent event during oral carcinogenesis. FHL1 downregulation in oral squamous cell carcinoma (OSCC) occurs through DNA methylation of the promoter region rather than histone deacetylation or mutation.
Anti-Factor IX antibody produced in rabbit has been used in immunoblotting and Gla enzyme-linked immunosorbent assay (ELISA).
生物化学的/生理学的作用
Hereditary deficiencies or dysfunctions of factor IX cause hemophilia B or "Christmas Disease"(the surname of the first family described).A disulfide bond in factor IX connects the N-terminal sequence (light chain) of factor IX to the C-terminal sequence (heavy chain).Factor IX possesses higher sensitivity, hence even tiny amounts of residual intact can be visualized by F0652.
物理的形状
0.01M PBS溶液(pH 7.4, 15 mMアジ化ナトリウム含有)
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An intragenic deletion of the factor IX gene in a family with hemophilia B.
Chen SH, et al.
The Journal of Clinical Investigation, 76(6), 2161-2161 (1985)
Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations
Pezeshkpoor B, et al.
Annals of Hematology, 97(6), 1061-1069 (2018)
Hepatocyte Is a Sole Cell Type Responsible for the Production of Coagulation Factor IX In Vivo
Production of biopharmaceuticals relies on the expression of mammalian cDNAs in host organisms. Here we show that the expression of a human cDNA in the moss Physcomitrium patens generates the expected full-length and four additional transcripts due to unexpected splicing.