Cloned (Comment) | Organism |
---|---|
expression of His6-tagged wild-type and mutant enzymes in HEK-293 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C196S | naturally occuring mutation, causes a failure in secretion of the enzyme | Homo sapiens |
G71V | naturally occuring mutation, causes a failure in secretion of the enzyme | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | - |
Homo sapiens | - |
- |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
gene CFI | - |
General Information | Comment | Organism |
---|---|---|
malfunction | two mutations, G17V and C196S, in the enzyme are identified in patients, which result in failure to secrete the enzyme, phenotype with high C3, membrane attack complex, and interleukin-1 levels in the brain and perivascular hemorrhagic necrosis, subacute inflammation in the subcortical white matter, patchy demyelination and an inflammatory infiltrate with a neutrophilic and histiocytic predominance, overview. Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis, overview | Homo sapiens |