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Oct 05 2010Coagulation factor V Alternative name(s): Activated protein C cofactor The disease is caused by mutations affecting the gene represented in this entry View protein in Pfam PF07732 Cu-oxidase_3 2 hits PF00754 F5_F8_type_C 2 hits PF06049 LSPR 21 hits PIRSF i: PIRSF000354 Factors_V_VIII
Dec 13 2011The F5 gene encodes coagulation factor V a large 330-kD plasma glycoprotein that circulates with little or no activity Factor V is converted to the active form factor Va by thrombin (F2 176930) which generates a heavy chain and a light chain held together by calcium ions Activated factor V serves as an essential protein in the coagulation pathway and acts as a cofactor for the conversion
F5 gene causes factor V Leiden thrombophilia The F5 gene provides instructions for making a protein called coagulation factor V This protein plays a critical role in the coagulation system which is a series of chemical reactions that forms blood clots in response to injury
Apr 15 2015Each of the mutations in the factor V gene was found in 1 of the 87 (1 1%) DVT patients with resistance In addition in 100 healthy subjects matched by age and gender in relation to the group of DVT patients these genetic variants were absent For promoter region and exon 7 of the F5 gene we did not observe abnormal SSCP patterns
Jan 09 2020Factor V Leiden variant is associated with thrombophilia due to activated protein C resistance [MIM:188055] Studies suggest that the relative risk for venous thrombosis associated with the factor V Leiden variant in the absence of other acquired or environmental predispositions is approximately 4- to 7-fold for heterozygotes and 80-fold for
Oct 05 2010Coagulation factor V Alternative name(s): Activated protein C cofactor The disease is caused by mutations affecting the gene represented in this entry View protein in Pfam PF07732 Cu-oxidase_3 2 hits PF00754 F5_F8_type_C 2 hits PF06049 LSPR 21 hits PIRSF i: PIRSF000354 Factors_V_VIII
Gene: f5: coagulation factor V: Gene: fam83fb: family with sequence similarity 83 member Fb: Gene: fam110b: family with sequence similarity 110 member B: Gene: fan1: FANCD2 and FANCI associated nuclease 1: Gene: fat1a: FAT atypical cadherin 1a: Gene: fbxl3l: F-box and leucine-rich repeat protein 3 like: Gene: fbxo36b: F-box protein 36b: Gene
Nov 01 20122 4 Genetic analysis of Factor V The genomic DNA was extracted from all the blood samples following the standard protocol mentioned by Sambrook and Russel 15 This DNA was used as template for amplification of the exon 10 of the Factor V gene 2 5 Polymerase chain reaction
Nov 01 20122 4 Genetic analysis of Factor V The genomic DNA was extracted from all the blood samples following the standard protocol mentioned by Sambrook and Russel 15 This DNA was used as template for amplification of the exon 10 of the Factor V gene 2 5 Polymerase chain reaction
Nov 01 20122 4 Genetic analysis of Factor V The genomic DNA was extracted from all the blood samples following the standard protocol mentioned by Sambrook and Russel 15 This DNA was used as template for amplification of the exon 10 of the Factor V gene 2 5 Polymerase chain reaction
coagulation factor V (proaccelerin labile factor) Other alias: FVL: PCCF: RPRGL1: THPH2: HGNC (Hugo) F5: LocusID (NCBI) 2153: Atlas_Id: 45563: Location: 1q24 2 [Link to chromosome band 1q24] Location_base_pair: Starts at 169511954 and ends at 169586531 bp from pter (
Dec 15 2001In the case of the factor V gene SNPs no regional differences in linkage disequilibrium could be observed Coagulation factor V (F5) (Baltimore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD) 1999] by using this number Open in new tab Table 2 The genotyping results and
Apr 15 20131 Introduction Coagulation Factor V is a large 330-kD glycoprotein which consists of 2224 amino acid residues including a 28-residue leader peptide which is structurally and functionally homologous to coagulation Factor VIII [1 2] The human Factor V gene (official name F5) maps to chromosome 1q23 and contains 25 exons (8) Factor V deficiency is a rare autosomal recessive
Factor V Leiden (FVL) is a gain-of-function single point mutation (Arg506Gln) in the gene coding for factor V one of the procoagulant proteins in the hemostatic system (Bertina et al 1994) It causes resistance of factor Va to inactivation by activated protein C leading to
Factor V Leiden (FVL) is a gain-of-function single point mutation (Arg506Gln) in the gene coding for factor V one of the procoagulant proteins in the hemostatic system (Bertina et al 1994) It causes resistance of factor Va to inactivation by activated protein C leading to
Factor V Leiden (FVL) is a gain-of-function single point mutation (Arg506Gln) in the gene coding for factor V one of the procoagulant proteins in the hemostatic system (Bertina et al 1994) It causes resistance of factor Va to inactivation by activated protein C leading to
The most common hereditary thrombophilias are factor V leiden (FVL) due to a mutation in the F5 gene and prothrombin G20210A as a result of a mutation in the F2 gene Factor V Leiden mutation is the most common hereditary blood coagulation disorder in the United States
Alias (NCBI) FVL: PCCF: RPRGL1: THPH2: HGNC (Hugo) F5: HGNC Previous name: coagulation factor V (proaccelerin labile factor) LocusID (NCBI) 2153: Atlas_Id: 45563: Location: 1q24 2 [Link to chromosome band 1q24] Location_base_pair: Starts at 169511951 and ends at 169586481 bp from pter ( according to hg38-Dec_2013)
Overview What is Factor V Leiden Mutation? Factor V Leiden is a common change in a gene that controls a protein called Factor V Factor V is a protein involved in blood clotting and the Factor V Leiden gene change (also called mutation) is linked to an increase risk of blood clots
Factor V deficiency is an autosomal recessive disorder that results from mutations in the factor V gene Heterozygotes are generally asymptomatic while homozygotes or combined heterozygotes may have mild to moderately severe bleeding symptoms About 100 mutations in the factor V gene have been reported [13] Bleeding manifestations are similar
Factor V deficiency is an autosomal recessive disorder that results from mutations in the factor V gene Heterozygotes are generally asymptomatic while homozygotes or combined heterozygotes may have mild to moderately severe bleeding symptoms About 100 mutations in the factor V gene have been reported [13] Bleeding manifestations are similar
The factor V (F5) gene is located on chromosome 1q23 spans about 80 kb and has 25 exons and 24 introns with a 7 kb mRNA which encodes a protein of 2224 amino acids The complete F5 cDNA sequence has already been published 3 4 More than 100 mutations and 700 polymorphisms have been reported in the F5 mutation database 5
Apr 15 20131 Introduction Coagulation Factor V is a large 330-kD glycoprotein which consists of 2224 amino acid residues including a 28-residue leader peptide which is structurally and functionally homologous to coagulation Factor VIII [1 2] The human Factor V gene (official name F5) maps to chromosome 1q23 and contains 25 exons (8) Factor V deficiency is a rare autosomal recessive
Introduction FV deficiency also known as Owren's disease parahemophilia was first described in 1943 by Dr Paul Owren in a patient having severe bleeding tendency due to the deficiency of a previously unknown coagulation factor (1 2) It is an autosomal recessive disorder with an incidence of about 1 in 1 million (3-5) The most common genetic defect is mutation of the F5 gene on the long
The coagulation factor V R506Q (Leiden) mutation is a well known risk factor for recurrent miscarriage although it has not been found in Japanese populations We examined whether the factor V Nara and Hong Kong mutations the factor V gene (F5) 16 single-nucleotide polymorphisms (SNPs) including the factor V R2 haplotype and plasma factor V
Apr 15 20131 Introduction Coagulation Factor V is a large 330-kD glycoprotein which consists of 2224 amino acid residues including a 28-residue leader peptide which is structurally and functionally homologous to coagulation Factor VIII [1 2] The human Factor V gene (official name F5) maps to chromosome 1q23 and contains 25 exons (8) Factor V deficiency is a rare autosomal recessive
Factor V deficiency is an autosomal recessive disorder that results from mutations in the factor V gene Heterozygotes are generally asymptomatic while homozygotes or combined heterozygotes may have mild to moderately severe bleeding symptoms About 100 mutations in the factor V gene have been reported [13] Bleeding manifestations are similar
View protein in InterPro IPR009271 Coagulation_factor_V_LSPD IPR011707 Cu-oxidase_3 IPR033138 Cu_oxidase_CS IPR008972 Cupredoxin IPR000421 FA58C IPR024715 Factor_5/8-like IPR008979 Galactose-bd-like_sf: Pfam i: View protein in Pfam PF07732 Cu-oxidase_3 2 hits PF00754 F5_F8_type_C 2 hits PF06049
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