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Protein Coding Gene : Cfb complement factor B
Primary Identifier  MGI:105975 Organism  mouse, laboratory
Chromosome  17 NCBI Gene Number  14962
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Predicted to enable serine-type endopeptidase activity. Acts upstream of or within complement activation, alternative pathway. Predicted to be located in extracellular region. Is expressed in embryo and liver lobe. Human ortholog(s) of this gene implicated in several diseases, including atypical hemolytic-uremic syndrome; autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and sickle cell anemia. Orthologous to human CFB (complement factor B).
PHENOTYPE: Homozygotes for targeted null mutations lack the alternative complement pathway, and have reduced overall complement activity. [provided by MGI curators]
  • synonyms:
  • Bf,
  • MGD-MRK-33655,
  • H2-Bf,
  • MGI:2146806,
  • alternative-complement pathway C3/C5 convertase,
  • complement component factor B,
  • expressed sequence AI255840,
  • AI255840,
  • Factor B,
  • MGI:2146810,
  • Cfb,
  • B,
  • FB,
  • MGD-MRK-1540,
  • histocompatibility 2, complement component factor B,
  • complement factor B,
  • expressed sequence AI195813,
  • AI195813
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Trail: ProteinCodingGene

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Disease

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