功能： catalytic activity:Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage.,disease:Defects in CFI are the cause of complement factor I deficiency (CFI deficiency) [MIM:610984]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.,disease:Defects in CFI are the cause of component I deficiency (CFI deficiency) [MIM:217030]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.,disease:Defects in CFI may be associated with or predispose to hemolytic uraemic syndrome (HUS) [MIM:235400]. HUS, the most frequent cause of acute renal failure in childhood, is characterized by the association of acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia. The majority of HUS cases occur after an episode of infectious diarrhea, and are associated with E.coli O157:H7 infection. However, atypical cases of HUS occur in the absence of infectious diarrhea, although less commonly. Some are inherited in either an autosomal dominant or a recessive pattern and these patients often experience relapse and progress to hypertension and chronic renal disease. Sporadic forms can occur with many of the same signs and symptoms.,function:Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.,online information:CFI mutation db,similarity:Belongs to the peptidase S1 family.,similarity:Contains 1 peptidase S1 domain.,similarity:Contains 1 SRCR domain.,similarity:Contains 2 LDL-receptor class A domains.,subunit:Heterodimer of a light and heavy chains linked by disulfide bonds.,tissue specificity:Plasma.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted, extracellular space. Secreted .
组织表达： Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:6444659, PubMed:17320177).
功能： catalytic activity:Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage.,disease:Defects in CFI are the cause of complement factor I deficiency (CFI deficiency) [MIM:610984]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.,disease:Defects in CFI are the cause of component I deficiency (CFI deficiency) [MIM:217030]. CFI deficiency is an autosomal recessive condition associated with a propensity to pyogenic infections.,disease:Defects in CFI may be associated with or predispose to hemolytic uraemic syndrome (HUS) [MIM:235400]. HUS, the most frequent cause of acute renal failure in childhood, is characterized by the association of acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia. The majority of HUS cases occur after an episode of infectious diarrhea, and are associated with E.coli O157:H7 infection. However, atypical cases of HUS occur in the absence of infectious diarrhea, although less commonly. Some are inherited in either an autosomal dominant or a recessive pattern and these patients often experience relapse and progress to hypertension and chronic renal disease. Sporadic forms can occur with many of the same signs and symptoms.,function:Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.,online information:CFI mutation db,similarity:Belongs to the peptidase S1 family.,similarity:Contains 1 peptidase S1 domain.,similarity:Contains 1 SRCR domain.,similarity:Contains 2 LDL-receptor class A domains.,subunit:Heterodimer of a light and heavy chains linked by disulfide bonds.,tissue specificity:Plasma.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Secreted, extracellular space. Secreted .
组织表达： Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:6444659, PubMed:17320177).
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