🧬 基因注释：CFI
官方名称：complement factor I
功能摘要：This gene 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 uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015].
- EIF4A3 置信度: 2.0
- HNRNPA1 置信度: 2.0
- HNRNPC 置信度: 2.0
- HNRNPK 置信度: 2.0
- HNRNPL 置信度: 2.0
- HNRNPM 置信度: 2.0
- HNRNPU 置信度: 2.0
- KHSRP 置信度: 2.0
- RBFOX2 置信度: 2.0
- AQR 置信度: 1.0
- FUS 置信度: 1.0
- HNRNPUL1 置信度: 1.0
- MATR3 置信度: 1.0
- PCBP2 置信度: 1.0
- PRPF4 置信度: 1.0
- PRPF8 置信度: 1.0
- Rnps1 置信度: 1.0
- SF3A3 置信度: 1.0
- SMNDC1 置信度: 1.0
- SRSF9 置信度: 1.0
该基因暂无关联疾病记录