What are the genetics of factor X deficiency?

Updated: Mar 23, 2018
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Perumal Thiagarajan, MD  more...
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Answer

The human gene encoding factor X is primarily expressed in the liver and is located on the long arm of chromosome 13, just downstream from the gene for factor VII. [7, 8] It is composed of 8 exons and contains 22 kilobases of DNA. [9] The gene encodes the following [10] :

  • A signal region
  • A propeptide region
  • A glutamic acid domain
  • An "aromatic stack" region
  • Two regions homologous to epidermal growth factor
  • A catalytic domain

The enzyme gamma-glutamyl carboxylase, in the presence of vitamin K, converts the glutamic acid residues to gamma-carboxyglutamic acid residues. These gamma-carboxyglutamic acid residues are necessary for the binding of prothrombin to phospholipids on platelet membranes.


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