Gene: F11-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 4

Location in Chromosome : 4q35.2

Description of this Gene: F11 antisense RNA 1

Type of Gene: ncRNA

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

rs2289252 in F11-AS1;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.

rs201007090 in F11-AS1;F11 gene and Bleeding tendency PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1057516777 in F11-AS1;F11 gene and Hereditary Factor XI Deficiency PMID 18832909 2008 Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.

PMID 12879434 2003 Compound heterozygosity for two novel mutations in a severe factor XI deficiency.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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 17229051 2007 A cross-reactive material positive variant of coagulation factor XI (FXIP520L) with a catalytic defect.

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

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

PMID 11122101 2000 A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain.

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

PMID 20015217 2010 Characterization of the genetic basis of FXI deficiency in two Turkish patients.

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 20523169 2009 Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.

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

PMID 18758779 2009 Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

PMID 21718436 2011 Point mutations regarded as missense mutations cause splicing defects in the factor XI gene.

rs2289252 in F11-AS1;F11 gene and Venous Thromboembolism PMID 31420334 2019 Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

rs2289252 in F11-AS1;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.