F11 Chromosome 4
Coagulation factor XI
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Hereditary factor XI deficiency disease
Plasma factor XI deficiency
F11-related disorder
Inborn genetic diseases
Abnormal bleeding
Thrombocytopenia
Factor XI
Clear cell carcinoma of kidney
Nonpapillary renal cell carcinoma
Factor XI deficiency
Coagulation factor deficiency syndrome
Key Variants
RS1053472547
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
RS116667976
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Plasma factor XI deficiency, F11-related disorder
Health Risk
RS121965070
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
RS143588436
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
RS144595035
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145168351
Conflicting classifications of pathogenicity
Plasma factor XI deficiency, Plasma factor XI deficiency
Health Risk
RS149052026
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Plasma factor XI deficiency, Hereditary factor XI deficiency disease
Health Risk
RS149568223
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Plasma factor XI deficiency, Hereditary factor XI deficiency disease
Health Risk
RS150377265
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Plasma factor XI deficiency, F11-related disorder
Health Risk
RS1741382224
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
RS199761451
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
RS200593979
Conflicting classifications of pathogenicity
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
Health Risk
All Variants (199)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS281875250 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875251 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875265 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875269 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS281875272 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS28934608 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS375440170 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS533335580 | Health Risk | Likely pathogenic | Plasma factor XI deficiency, Hereditary factor XI deficiency disease, Plasma factor XI deficiency |
| RS754087775 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS754109115 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS755700350 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS757275646 | Health Risk | Likely pathogenic | — |
| RS760612112 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS764711007 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS767037207 | Health Risk | Likely pathogenic | — |
| RS767727775 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS779123395 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS901732635 | Health Risk | Likely pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS941166157 | Health Risk | Likely pathogenic | F11-related disorder, F11-related disorder |
| RS1024865708 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517035 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1057517364 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1173748968 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1183995627 | Health Risk | Pathogenic | — |
| RS1191677538 | Health Risk | Pathogenic | — |
| RS121965063 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Inborn genetic diseases, Plasma factor XI deficiency |
| RS121965064 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Factor XI, Plasma factor XI deficiency |
| RS121965065 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS121965072 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1220869989 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, F11-related disorder, Hereditary factor XI deficiency disease |
| RS142952627 | Health Risk | Pathogenic | — |
| RS143648758 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Abnormal bleeding, Hereditary factor XI deficiency disease |
| RS1439195599 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Plasma factor XI deficiency, Hereditary factor XI deficiency disease |
| RS1554081288 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554082832 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1561490982 | Health Risk | Pathogenic | — |
| RS1580098946 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1739974269 | Health Risk | Pathogenic | — |
| RS1740105027 | Health Risk | Pathogenic | — |
| RS1740201702 | Health Risk | Pathogenic | — |
| RS1741165195 | Health Risk | Pathogenic | — |
| RS201007090 | Health Risk | Pathogenic | Hereditary factor XI deficiency disease, Abnormal bleeding, Plasma factor XI deficiency |
| RS2126758583 | Health Risk | Pathogenic | — |
| RS2126773212 | Health Risk | Pathogenic | — |
| RS2126779711 | Health Risk | Pathogenic | — |
| RS2126791111 | Health Risk | Pathogenic | — |
| RS2477147706 | Health Risk | Pathogenic | — |
| RS2477247285 | Health Risk | Pathogenic | — |
| RS2477270976 | Health Risk | Pathogenic | — |
| RS2477280027 | Health Risk | Pathogenic | — |