🧬 基因注释：F8
官方名称：coagulation factor VIII
功能摘要：This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].
- HNRNPC 综合评分: 0.350 · 证据 2 条
- ELAVL3 综合评分: 0.260 · 证据 1 条
- FUBP1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- Ptbp2 综合评分: 0.200 · 证据 1 条
- Rnps1 综合评分: 0.198 · 证据 1 条
- NXF1 综合评分: 0.162 · 证据 1 条
- Tardbp 综合评分: 0.150 · 证据 1 条
- U2af1 综合评分: 0.150 · 证据 1 条
- CPSF3 综合评分: 0.100 · 证据 1 条
- CSTF2T 综合评分: 0.100 · 证据 2 条
- EIF4A3 综合评分: 0.100 · 证据 2 条
- YBX1 综合评分: 0.100 · 证据 1 条
该基因暂无关联疾病记录