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Literature summary for 3.4.21.6 extracted from

  • Chafa, O.; Tagzirt, M.; Tapon-Bretaudiere, J.; Reghis, A.; Fischer, A.M.; LeBonniec, B.F.
    Characterization of a homozygous Gly11Val mutation in the Gla domain of coagulation factor X (2009), Thromb. Res., 124, 144-148.
    View publication on PubMed
Search for more literature for 3.4.21.6

Protein Variants

Protein Variants Comment Organism
G11V naturally occuring mutation of factor Xa within the omega-loop of the gamma-carboxyglutamic-rich domain of the ature enzyme, leading to enzyme deficiency and a bleeding phenotype, overview. The mutant factor Xa activity is below 1% of wild-type activity, activation with RVV-X is 4fold less effective in the patient's plasma than in healthy plasma. The patient's phenotype appears to be due to a very low rate of FXG11V activation by TF/FVIIa and FVIIIa/FIXa complexes rather than to FXaG11V activity within prothrombinase, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
prothrombin + H2O Homo sapiens
-
 thrombin + ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
 Homo sapiens
-
commercial preparation
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
prothrombin + H2O
-
 Homo sapiens thrombin + ?
-
 ?
S2765 + H2O
-
 Homo sapiens ?
-
 ?

Synonyms

Synonyms Comment Organism
factor Xa
-
 Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
7.4
-
 assay at Homo sapiens

General Information

General Information Comment Organism
malfunction factor Xa deficiency is a rare inherited autosomal recessive trait, a patient harboring the mutation is affected by a severe bleeding diathesis Homo sapiens