QuickView for coagulation factor ix (gene)

Gene Symbol:

F9 Homo sapiens

Full name:

coagulation factor IX

Synonyms:

F9 p22, FIX, HEMB, P19, PTC, THPH8, coagulation factor IX, Christmas factor, factor 9, factor IX F9, plasma thromboplastic component, plasma thromboplastin component

Genomic Location:

Chr X: 138440561-138473283

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 b...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  TGGNNNNNNKCCAR_UNKNOWN ,  CEBP_Q2_01 ,  YATTNATC_UNKNOWN ,  STAT6_01 ,  STAT_Q6 ,  CEBPB_01 ,  STAT5B_01 ,  STAT5A_03 ,  TGTTTGY_HNF3_Q6 ,  STAT_01 ,  TTCYNRGAA_STAT5B_01 ,  STAT5A_01

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Cytogenetic Map:

Xq27.1

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