What is the role of genetics in the pathophysiology of protein C deficiency?

Updated: Jan 04, 2019
  • Author: Shamudheen Rafiyath, MD; Chief Editor: Perumal Thiagarajan, MD  more...
  • Print
Answer

Heterozygous protein C deficiency is inherited in an autosomal dominant fashion. The gene for protein C is located on the long arm of chromosome 2 and nearly 200 pathogenic mutations of this gene have been described. [7] These mutations are divided into 2 types—type I and type II—on the basis of whether they cause a quantitative (type I) or functional (type II) deficiency of protein C.


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!