Gene: F11

Alternate names for this Gene: FXI|PTA

Gene Summary: This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality.

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.2

Description of this Gene: coagulation factor XI

Type of Gene: protein-coding

rs1593 in F11 gene and Activated Partial Thromboplastin Time measurement PMID 22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs143648758 in F11 gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs4253417 in F11 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs281875266 in F11 gene and Coagulation factor deficiency syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1057516695 in F11 gene and Hereditary Factor XI Deficiency PMID 12716376 2003 Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography.

PMID 16835901 2006 Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

PMID 16607084 2006 Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

PMID 27067486 2016 Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

PMID 2813350 1989 Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations.

PMID 15026311 2004 Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

PMID 15140127 2004 A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

PMID 10593931 1999 Identification of amino acids in the factor XI apple 3 domain required for activation of factor IX.

PMID 2052060 1991 Factor XI deficiency in Ashkenazi Jews in Israel.

PMID 21668437 2012 Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

PMID 21457405 2011 Three dominant-negative mutations in factor XI-deficient patients.

PMID 19652879 2009 Structural analysis of eight novel and 112 previously reported missense mutations in the interactive FXI mutation database reveals new insight on FXI deficiency.

PMID 21999818 2012 A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.

PMID 22016685 2011 A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

PMID 25158988 2015 Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.

PMID 22159456 2012 Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

PMID 10027710 1999 Identification of a novel mutation in a non-Jewish factor XI deficient kindred.

PMID 1547342 1992 Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency.

PMID 15180874 2004 Severe factor XI deficiency caused by compound heterozygosity.

PMID 11895778 2002 Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.

PMID 15953011 2005 Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.

PMID 10606881 1999 Heterozygous factor XI deficiency associated with three novel mutations.

PMID 18005151 2008 Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.

PMID 7669672 1995 Identification of two novel mutations in non-Jewish factor XI deficiency.

PMID 9787168 1998 Identification of mutations and polymorphisms in the factor XI genes of an African American family by dideoxyfingerprinting.

PMID 26558335 2016 In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency.

PMID 9401068 1997 Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11.

PMID 7888672 1995 Six point mutations that cause factor XI deficiency.

PMID 16079124 2005 Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).

PMID 20398070 2010 Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.

PMID 18839438 2008 Factor XI gene mutations in factor XI deficient patients of the Czech Republic.

PMID 16787881 2006 Recurrent mutations of factor XI gene in Japanese.

PMID 15531455 2004 Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients.

PMID 25681615 2015 Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.

PMID 15946525 2005 [The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].

PMID 16519703 2006 Coagulation factor XI gene analysis in three factor XI deficient Austrian patients.

PMID 23305485 2013 Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.

PMID 24112640 2014 The spectrum of factor XI deficiency in Italy.

PMID 19367158 2009 First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage.

PMID 27710856 2016 Clinical and molecular epidemiology of factor XI deficiency in India.

PMID 24982842 2014 Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

PMID 14717969 2004 Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.

PMID 18515884 2008 Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.

PMID 21649796 2011 Molecular analysis of severe factor XI deficiency in three Italian patients.

PMID 18446632 2008 Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis.

PMID 18327400 2008 Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

PMID 21824284 2011 Mutations in disguise.

PMID 21192253 2011 Genetic analysis of a pedigree with combined factor XII and factor XI deficiency.

PMID 17549289 2007 Characterisation of five factor XI mutations.

PMID 14508802 2003 Two factor XI mutations in a Chinese family with factor XI deficiency.

PMID 25074526 2014 Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation.

PMID 18024374 2007 Characterization of seven novel mutations causing factor XI deficiency.

PMID 15634276 2005 Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling.

PMID 15728123 2005 A classification system for cross-reactive material-negative factor XI deficiency.

PMID 11127865 2000 Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families.

rs4253832 in F11 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1593 in F11 gene and Venous Thromboembolism PMID 21980494 2011 Genetics of venous thrombosis: insights from a new genome wide association study.

PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

PMID 22672568 2012 A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.

PMID 23650146 2013 A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

PMID 28373160 2017 Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor.

PMID 25772935 2015 Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.

PMID 31676865 2019 Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease.

rs1593 in F11 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.