F9

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, Jul 2008]

Description

coagulation factor IX

Protein family

Enzymes, Peptidases, Secreted proteins predicted by MDSP

Chromosome

X:q27.1 (138612917 - 138645617)

Ensembl ID

ENSG00000101981  (ver. 69.37)

Orthologs

Mouse F9: ENSMUSG00000031138

Human splice variants
Mouse splice variants