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GENATLAS PHENOTYPE
last update : 12/06/2006
Symbol C3D
Location 19p13.3
Name complement component 3 deficiency
Other name(s)
  • C3 deficiency . lupus systemic syndrome
    • Corresponding gene C3
    Main clinical features
  • glomerulonephritis, pyogenic recurrent infections, recurrent tonsillitis and pneumonia, with undetectable serum C3 level
    • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name complement component 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function homozygous deletion of exon 39 retained in endoplasmic reticulum-Golgi intermediate compartment because of defective secretion