Literature summary for 3.4.21.45 extracted from

Chan, M.R.; Thomas, C.P.; Torrealba, J.R.; Djamali, A.; Fernandez, L.A.; Nishimura, C.J.; Smith, R.J.; Samaniego, M.D.
Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient (2009), Am. J. Kidney Dis., 53, 321-326.

Search for more literature for 3.4.21.45

Application

Application	Comment	Organism
medicine	importance of screening patients with atypical hemolytic uremic syndrome for mutations in the CFI gene before renal transplantation, to avoid unsuccessful transplantation	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
Y369S	patient heterozygous for a novel missense mutation in CFI. This polymorphism is within a functional domain. It is located in the 38 kDa chain of the protein within the serine protease domain that is linked by a disulfide bond to the noncatalytic heavy chain of factor I	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
CFI	-	Homo sapiens
factor I	-	Homo sapiens

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Release 2023.1 (January 2023)