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

BRENDA support

Literature summary for 3.4.21.45 extracted from

  • Ponce-Castro, I.M.; Gonzalez-Rubio, C.; Delgado-Cervino, E.M.; Abarrategui-Garrido, C.; Fontan, G.; Sanchez-Corral, P.; Lopez-Trascasa, M.
    Molecular characterization of Complement Factor I deficiency in two Spanish families (2008), Mol. Immunol., 45, 2764-2771.
    View publication on PubMed

Application

Application Comment Organism
medicine two Spanish families with complete factor I deficiency, suffering from meningitis. The two families have different mutations at exon 5 of the factor I gene, which codifies for module LDLr1. One mutation corresponds to a 772G-A change at the donor splice site that is originally found in a family from Northern England. The second is a new missense mutation 739T-G, that generates a Cys to Gly change. Homozygous factor I deficiency is associated with infectious and/or autoimmune diseases Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-
serum
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
CFI
-
Homo sapiens