Factor IX

  • OMIM: 306900
  • UniProt: P00740
  • MGI: 88 384
  • CAS Number: 9001-28-9

The Christmas factor ( also antihemophilic globulin B or factor IX) is a clotting factor with blood clotting enzyme function ( serine proteinase ). The synthesis of the Christmas factor takes place in the liver and requires vitamin K. The protein has a molecular mass of about 68 kDa and belongs to the group of β - globulins.

Genetics

The gene encoding the Christmas factor lies in humans on the X chromosome, locus q27.1 - 27.2.

Function

The Christmas factor is activated by factor XIa (plasma thromboplastin antecedent ) and / or factor VIIa ( Proconvertin ). When enabled, the Christmas factor in turn activated by hydrolysis of the factor X ( Stuart - Prower factor).

As a coenzyme of Christmas - factor calcium, phospholipids, and factor VIII needed ( antihemophilic globulin A).

Diseases

A congenital deficiency of Christmas factor is present at a hemophilia (hemophilia B). Acquired deficiency states occur (eg, lupus erythematosus ) in the case of vitamin K deficiency or the presence of autoantibodies against the Christmas factor.

The Christmas factor can be substituted in the form of factor concentrates as an infusion. These include the factor in purified and concentrated form, which is obtained by plasma fractionation of blood plasma. The determination of the Christmas factor activity can be diagnostically provide information on the existence of a deficiency state.

History

The Christmas Factor was named after Stephen Christmas, the five- year-old patient, at the 1952 hemophilia B, and their inheritance patterns were first described. The fact that the publication in the British Medical Journal just published in the Christmas issue of 27 December, more random and in any case was probably not decisive for the naming.

Swell

  • Giangrande PL. Six characters in search of an author: the history of the nomenclature of coagulation factors. Br J Haematol 2003; 121:703-12. PMID 12,780,784th
  • Biggs RA, Douglas AS, MacFarlane RG, Dacie JV, Pittney WR, Merskey C, O'Brien JR. Christmas disease: a condition added anonymously mistaken for haemophilia. Br Med J 1952; 2:1378-1382. PMID 12,997,790th
Human Genome Organisation Mouse Genome Informatics CAS registry number Anatomical Therapeutic Chemical Classification System DrugBank MEROPS Euteleostomi Cofactor (biochemistry) Blood plasma fractionation Fibrinogen Tissue factor Kallikrein
3460
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