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RNA cancer category: Tissue enriched (liver cancer)
PROTEIN EXPRESSION
Pending cancer tissue analysis
STAINING SUMMARY
GENE INFORMATION
Gene name
F9 (HGNC Symbol)
Synonyms
FIX
Description
Coagulation factor IX (HGNC Symbol)
Entrez gene summary
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. [provided by RefSeq, Sep 2015]
