🧬 基因注释：LDLR

官方名称：low density lipoprotein receptor

功能摘要：The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022].

• HNRNPA2B1 综合评分: 0.412 · 证据 2 条
• QKI 综合评分: 0.412 · 证据 1 条
• Srsf2 综合评分: 0.398 · 证据 1 条
• RBFOX2 综合评分: 0.362 · 证据 2 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPC 综合评分: 0.350 · 证据 2 条
• HNRNPH1 综合评分: 0.350 · 证据 2 条
• MBNL1 综合评分: 0.350 · 证据 2 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• RBM15 综合评分: 0.312 · 证据 2 条
• RBM22 综合评分: 0.312 · 证据 2 条
• TIA1 综合评分: 0.312 · 证据 1 条
• CELF2 综合评分: 0.310 · 证据 2 条
• FUS 综合评分: 0.300 · 证据 1 条
• HNRNPK 综合评分: 0.300 · 证据 2 条
• HNRNPL 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF9 综合评分: 0.300 · 证据 1 条
• fus 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录