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PROS1

From SNPedia

is agene
is mentioned by
ClinVarPROS1
GeneCardsPROS1
DiseasesPROS1
wikipediaPROS1
googlePROS1
gopubmedPROS1
EVSPROS1
HEFalMpPROS1
MyGene2PROS1
23andMePROS1
# SNPs34
 Max MagnitudeChromosome positionSummary
rs121918472093,879,306
rs121918473093,898,524
rs121918474093,905,799
rs121918475093,898,462
rs121918476093,877,155
rs138925964693,879,279
rs199469484093,973,917
rs199469485093,927,331
rs199469486093,910,693
rs199469487093,905,802
rs199469488093,896,676
rs199469489093,896,773
rs199469490093,893,139
rs199469491093,892,993
rs199469492093,892,933
rs199469493093,893,186
rs199469494093,892,928
rs199469495093,886,430
rs199469496093,884,827
rs199469497093,905,784
rs199469498093,884,730
rs199469499093,884,782
rs199469500093,879,264
rs199469501093,879,331
rs199469502093,879,091
rs199469503093,877,156
rs267606981093,874,245
rs368074804093,898,570
rs387906674093,893,025
rs387906675093,900,830
rs485703793,908,968
rs5017717093,884,869
rs6122093,927,251
rs86322483893,893,121

From: Genetics Home Reference

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.

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.

Diseases associated with PROS1 include thrombophilia due to Protein S deficiency, which is can be inherited in either an autosomal dominant or recessive manner.OMIM