🧬 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].

• HNRNPA1 综合评分: 0.412 · 证据 2 条
• HNRNPK 综合评分: 0.362 · 证据 2 条
• KHSRP 综合评分: 0.362 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• HNRNPU 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条
• PRPF8 综合评分: 0.262 · 证据 1 条
• PRPF4 综合评分: 0.212 · 证据 1 条
• U2af1 综合评分: 0.212 · 证据 1 条
• MATR3 综合评分: 0.200 · 证据 1 条
• PCBP2 综合评分: 0.200 · 证据 1 条
• SF3A3 综合评分: 0.200 · 证据 1 条
• Tra2a 综合评分: 0.162 · 证据 1 条
• AQR 综合评分: 0.150 · 证据 1 条

该基因暂无关联疾病记录