CFI

Aliases:
This biomarker is also known as:
  • AHUS3
  • I Factor (Complement)
  • C3B/C4B Inactivator
  • Complement Factor I
  • EC 3.4.21.45
  • FI
  • Complement Factor I Heavy Chain
  • KAF
  • Light Chain Of Factor I
  • Complement Component I
  • IF
  • Complement Control Protein Factor I
  • ARMD13
  • C3BINA
  • C3b-INA
  • Konglutinogen-Activating Factor
  • EC 3.4.21
  • CFI
  • C3b-Inactivator

Description…

From NCBI Gene: 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]

Datasets

There are no datasets associated with this biomarker.

Attributes
QA State: Under Review
Type: Protein
HGNC Name: CFI

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access to this biomarker.

Version 5.1.0