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

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

rs142952627 in F11;F11-AS1 gene and Hereditary 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 7888672 1995 Six point mutations that cause factor XI deficiency.

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

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

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

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

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

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

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

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

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

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

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

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

PMID 17549289 2007 Characterisation of five factor XI mutations.

PMID 15749683 2005 Homozygosity for a Thr575Met missense mutation in the catalytic domain associated 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 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 16835901 2006 Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

PMID 15968392 2005 Characterisation of blood coagulation factor XI T475I.

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

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

PMID 23332144 2013 Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.

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

PMID 15842381 2005 Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val).