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Gene : F9 Homo sapiens
Name  ? coagulation factor IX Cytological Location  Xq27.1
Brief Description  coagulation factor IX
Description  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]
  • synonyms:
  • F9,
  • HGNC:3551,
  • P19,
  • OTTHUMG00000022536,
  • hemophilia B,
  • THPH8,
  • F9 p22,
  • HEMB,
  • uc004fas.2,
  • Christmas disease,
  • FIX,
  • plasma thromboplastic component,
  • Factor IX,
  • M11309,
  • FIX,
  • PTC,
  • NM_000133
  • identifiers:
  • 2158,
  • ENSG00000101981,
  • F9

Genome feature

Region: gene ? Length: 32740  
Location: X:139530720-139563459 Cyto location: Xq27.1


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