Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.4.21.45 extracted from

  • Broderick, L.; Gandhi, C.; Mueller, J.L.; Putnam, C.D.; Shayan, K.; Giclas, P.C.; Peterson, K.S.; Aceves, S.S.; Sheets, R.M.; Peterson, B.M.; Newbury, R.O.; Hoffman, H.M.; Bastian, J.F.
    Mutations of complement factor I and potential mechanisms of neuroinflammation in acute hemorrhagic leukoencephalitis (2013), J. Clin. Immunol., 33, 162-171.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.4.21.45

Cloned(Commentary)

Cloned (Comment) Organism
expression of His6-tagged wild-type and mutant enzymes in HEK-293 cells Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
extracellular
-
 Homo sapiens
-
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene CFI
-

General Information

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