Entrez gene ID | | 2158 |
Official gene symbol | | F9 |
Full name | | coagulation factor IX |
Aliases | | ,FIX,HEMB,MGC129641,MGC129642,PTC, |
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. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq27.1-q27.2 |
Gene position | | 138612895 - 138645617 Map Viewer |
Gene orientation | | plus |
Gene size | | 32723 bp |
Gene sequence |
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OMIM ID | | 300746 |
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