🧬 基因注释：APOB
官方名称：apolipoprotein B
功能摘要：This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019].
- HNRNPA1 综合评分: 0.412 · 证据 2 条
- HNRNPC 综合评分: 0.412 · 证据 2 条
- FUS 综合评分: 0.362 · 证据 1 条
- HNRNPL 综合评分: 0.362 · 证据 2 条
- fus 综合评分: 0.362 · 证据 1 条
- HNRNPM 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- TIA1 综合评分: 0.312 · 证据 1 条
- HNRNPK 综合评分: 0.300 · 证据 2 条
- HNRNPU 综合评分: 0.300 · 证据 2 条
- KHSRP 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
- MATR3 综合评分: 0.262 · 证据 1 条
- PCBP1 综合评分: 0.262 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- AQR 综合评分: 0.212 · 证据 1 条
- PRPF4 综合评分: 0.212 · 证据 1 条
- PRPF8 综合评分: 0.200 · 证据 1 条
- SF3A3 综合评分: 0.200 · 证据 1 条
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