CFI FISH Probe

This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]


Gene Details
SKU Test Kits Buffer Dye Color Order Now
CFI-20-RE 20 (40 μL) 200 μL color Request Pricing
CFI-20-OR 20 (40 μL) 200 μL color Request Pricing
CFI-20-GO 20 (40 μL) 200 μL color Request Pricing
CFI-20-GR 20 (40 μL) 200 μL color Request Pricing
CFI-20-AQ 20 (40 μL) 200 μL color Request Pricing

Gene Summary

This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]

Gene Details

Gene Symbol : CFI

Gene Name : Complement factor I

Chromosome : CHR 4: 109,802,224-109,731,220

Locus : 4q25

Alt. Genes : MKRN3-AS1

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