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Chen, K. PROS1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/3887 (accessed on 27 July 2024).
Chen K. PROS1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/3887. Accessed July 27, 2024.
Chen, Karina. "PROS1 Gene" Encyclopedia, https://encyclopedia.pub/entry/3887 (accessed July 27, 2024).
Chen, K. (2020, December 22). PROS1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/3887
Chen, Karina. "PROS1 Gene." Encyclopedia. Web. 22 December, 2020.
PROS1 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/pros1

protein S

genes

1. Normal Function

The PROS1 gene provides instructions for making a protein called protein S that is important for controlling blood clotting. By itself, protein S cannot carry out the chemical reactions necessary for regulating the formation of blood clots. Instead, protein S attaches to certain enzymes and enhances their function. On the basis of this action, protein S is called a cofactor.

Protein S is made chiefly by cells in the liver. The protein circulates in the bloodstream in two forms; it is either attached (bound) to a specific protein or occurs by itself in a free form. Both forms of proteins S can act as cofactors; however, bound protein S is less effective than the free form. Protein S is a cofactor for an enzyme called activated protein C (APC). APC turns off (inactivates) the blood clotting proteins known as factor Va and factor VIIIa. Protein S also helps an enzyme known as tissue factor pathway inhibitor (TFPI) block the activity of another clotting protein, factor Xa.

2. Health Conditions Related to Genetic Changes

2.1. Protein S deficiency

More than 220 mutations in the PROS1 gene have been found to cause protein S deficiency. Most of these mutations change single protein building blocks (amino acids) in protein S, which disrupts its ability to act as a cofactor. Protein S deficiency can be divided into three types based on the mutation in the PROS1 gene.

Protein S deficiency type I is caused by PROS1 gene mutations that result in reduced levels of protein S. Affected individuals do not have enough protein S to control blood clotting, which causes the increased risk for abnormal blood clots in protein S deficiency.

Mutations that cause protein S deficiency type II result in the production of an altered protein S with reduced activity. Individuals with this form of the condition have normal levels of protein S, but the protein is not able to interact with other molecules involved in blood clotting. If protein S does not function properly, abnormal blood clots may form.

Protein S deficiency type III occurs when there is a low amount of free protein S, but the overall amount of protein S is normal. Because free protein S is a more effective cofactor than bound protein S, reduced levels of free protein S can disrupt the inactivation of blood clotting proteins.

3. Other Names for This Gene

  • PROS

  • PROS_HUMAN

  • protein S (alpha)

  • protein S, alpha

  • protein S, alpha preproprotein

  • protein Sa

  • PS21

  • PS22

  • PS23

  • PS24

  • PS25

  • PSA

  • vitamin K-dependent plasma protein S

References

  1. Castoldi E, Hackeng TM. Regulation of coagulation by protein S. Curr OpinHematol. 2008 Sep;15(5):529-36. doi: 10.1097/MOH.0b013e328309ec97. Review.
  2. García de Frutos P, Fuentes-Prior P, Hurtado B, Sala N. Molecular basis ofprotein S deficiency. Thromb Haemost. 2007 Sep;98(3):543-56. Review.
  3. Hackeng TM, Maurissen LF, Castoldi E, Rosing J. Regulation of TFPI function byprotein S. J Thromb Haemost. 2009 Jul;7 Suppl 1:165-8. doi:10.1111/j.1538-7836.2009.03363.x. Review.
  4. Pintao MC, Garcia AA, Borgel D, Alhenc-Gelas M, Spek CA, de Visser MC,Gandrille S, Reitsma PH. Gross deletions/duplications in PROS1 are relativelycommon in point mutation-negative hereditary protein S deficiency. Hum Genet.2009 Sep;126(3):449-56. doi: 10.1007/s00439-009-0687-9.
  5. Ten Kate MK, Platteel M, Mulder R, Terpstra P, Nicolaes GA, Reitsma PH, vander Steege G, van der Meer J. PROS1 analysis in 87 pedigrees with hereditaryprotein S deficiency demonstrates striking genotype-phenotype associations. HumMutat. 2008 Jul;29(7):939-47. doi: 10.1002/humu.20687.
  6. ten Kate MK, van der Meer J. Protein S deficiency: a clinical perspective.Haemophilia. 2008 Nov;14(6):1222-8. doi: 10.1111/j.1365-2516.2008.01775.x.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :
Karina Chen
View Times: 363
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 22 Dec 2020
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