Coagulation Factor XI

Alternative Names

  • F11
  • Factor XI

Associated Diseases

Factor XI Deficiency
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OMIM Number

264900

NCBI Gene ID

2160

Uniprot ID

P03951

Length

23,737 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Coagulation Factor XI

Molecular Mass

70109 Da

Amino Acid Count

625

Genomic Location

ch4:186,265,963-186,290,726

Gene Map Locus
4q35.2

Description

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... [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000128.3:c.1060G>ALebanonchr4:186280505PathogenicFactor XI DeficiencyNG_008051.1:g.19542G>A; NM_000128.3:c.1060G>A; NP_000119.1:p.Gly354Arg777714867
NM_000128.3:c.1557G>CLebanonchr4:186286491PathogenicFactor XI DeficiencyNG_008051.1:g.25528G>C; NM_000128.3:c.1557G>C; NP_000119.1:p.Trp519Cys1334907475
NM_000128.3:c.1778C>TLebanonchr4:186288514PathogenicFactor XI DeficiencyNG_008051.1:g.27551C>T; NM_000128.3:c.1778C>T; NP_000119.1:p.Thr593Met145906668371214
NM_000128.3:c.403G>TLebanonchr4:186274193PathogenicFactor XI DeficiencyNG_008051.1:g.13230G>T; NM_000128.3:c.403G>T; NP_000119.1:p.Glu135Ter12196506311891
NM_000128.3:c.682C>TLebanonchr4:186276317PathogenicFactor XI DeficiencyNG_008051.1:g.15354C>T; NM_000128.3:c.682C>T; NP_000119.1:p.Arg228Ter752907087188795
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