Viral Details

Viral Backbone

Recombinant AAV

AAV-ITR

AAV2

AAV Serotype

Available in AAV1, AAV2, AAV3, AAV5, AAV6, AAV8, AAV9, AAV-DJ, AAV-DJ8, AAV-DJ9 and other wildtype/synthetic AAV capsids

Promoter

CMV (default), or choose from 30 different ubiquitous or cell specific promoter

Reporter

none, optional GFP, CFP, YFP, RFP or mCherry

Storage Buffer

PBS/5% Glycerol

Gene Details

Species

Human

Gene Symbol

CFI

Gene Name

complement factor I

Gene ID

3426

Gene Synonyms

AHUS3; ARMD13; C3b-INA; C3BINA; FI; IF; KAF

ORF Size

1134 bp

RefSeq#

BC020718

Gene Description

CFI encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uraemic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is another condition associated with mutation of this gene.

UniGene ID

Hs.312485

HGNC ID

HGNC:5394