低密度脂蛋白受体

低密度脂蛋白受体（Low-Density Lipoprotein (LDL) Receptor），又称LDL受体，为一种膜镶嵌式蛋白质，全长有839个氨基酸（扣掉21氨基酸长的讯息肽）^[1]。本受体调控低密度脂蛋白（LDL）的胞吞作用。此种受体专门辨认LDL颗粒上的B100脂蛋白，也可辨认乳糜微粒残体及中间密度脂蛋白（IDL，极低密度脂蛋白的残体）上的Apo E。人体LDL受体的基因编码为LDLR基因^[2][3]。属于低密度脂蛋白受体家族（英语：Low density lipoprotein receptor gene family）^[4]。

低密度脂蛋白受体
PDB rendering based on 1ajj.
有效结构 PDB 直系同源检索：PDBe, RCSB PDB查询代码列表 1AJJ, 1D2J, 1F5Y, 1F8Z, 1HJ7, 1HZ8, 1I0U, 1IJQ, 1LDL, 1LDR, 1LRX, 1N7D, 1XFE, 2FCW, 2KRI, 2LGP, 2M7P, 2MG9, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 3BPS, 3GCW, 3GCX, 3M0C, 3P5B, 3P5C, 3SO6
标识
代号	LDLR; FH; FHC; LDLCQ2
扩展标识	遗传学：606945 鼠基因：96765 同源基因：55469 ChEMBL: 3311 GeneCards: LDLR Gene
基因本体论描述 分子功能 · glycoprotein binding · low-density lipoprotein receptor activity · calcium ion binding · protein binding · low-density lipoprotein particle binding · very-low-density lipoprotein particle receptor activity 细胞成分 · lysosome · early endosome · late endosome · Golgi apparatus · plasma membrane · integral component of plasma membrane · coated pit · external side of plasma membrane · cell surface · endosome membrane · membrane · clathrin-coated endocytic vesicle membrane · low-density lipoprotein particle · receptor complex 生物过程 · retinoid metabolic process · lipid metabolic process · endocytosis · receptor-mediated endocytosis · phototransduction, visible light · cholesterol metabolic process · positive regulation of triglyceride biosynthetic process · regulation of phosphatidylcholine catabolic process · phospholipid transport · viral process · intestinal cholesterol absorption · cholesterol transport · low-density lipoprotein particle clearance · lipoprotein metabolic process · lipoprotein catabolic process · cholesterol homeostasis · small molecule metabolic process · cholesterol import Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种	人类	小鼠
Entrez	3949	16835
Ensembl	ENSG00000130164	ENSMUSG00000032193
UniProt	P01130	P35951
mRNA序列	NM_000527	NM_001252658
蛋白序列	NP_000518	NP_001239587
基因位置	Chr 19: 11.2 – 11.24 Mb	Chr 9: 21.72 – 21.75 Mb
PubMed查询	[1]	[2]
查 论 编

Michael S. Brown和Joseph L. Goldstein即因发现LDL受体，以及其与胆固醇代谢的关系^[5]，而获得1985年诺贝尔生理医学奖^[6]。

临床价值

LDL与粥状动脉硬化有直接的关系，可能会导致心血管疾病。

功能

LDL-胆固醇会和衔接蛋白（英语：adaptin）（adaptin）结合，并在细胞膜中格形蛋白（clathrin）围住的孔洞中，与LDL受体结合成“LDL受体复合物”。此时，格形蛋白会将LDL-胆固醇吞噬入细胞内，形成囊泡。

突变

LDLR途径

LDL受体的突变大约分为五大类：^[7]

• 1类: LDLR没有完全合成.
• 2类: LDLR没有正常地从内质网转运至高尔基体并在细胞表面表达。
• 3类: LDLR没有正常地在细胞表面与LDL结合，因为载脂蛋白B100（R3500Q）或LDL-R内部有缺陷。
• 4类: LDLR与LDL结合时没有正常地聚集在网格蛋白包被进行受体介导的内吞作用（途径中的步骤2）。
• 5类: LDLR没有被正常地回收至细胞表面（途径中的步骤5）。

参考文献

1. Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science. May 1985, 228 (4701): 815–22. PMID 2988123. doi:10.1126/science.2988123.
2. Francke U, Brown MS, Goldstein JL. Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease. Proc. Natl. Acad. Sci. U.S.A. May 1984, 81 (9): 2826–30. PMC 345163 . PMID 6326146. doi:10.1073/pnas.81.9.2826.
3. Lindgren V, Luskey KL, Russell DW, Francke U. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc. Natl. Acad. Sci. U.S.A. December 1985, 82 (24): 8567–71. PMC 390958 . PMID 3866240. doi:10.1073/pnas.82.24.8567.
4. Nykjaer A, Willnow TE. The low-density lipoprotein receptor gene family: a cellular Swiss army knife?. Trends Cell Biol. June 2002, 12 (6): 273–80 [2015-01-26]. PMID 12074887. doi:10.1016/S0962-8924(02)02282-1. （原始内容存档于2018-05-01）.
5. Brown MS, Goldstein JL. How LDL Receptors Influence Cholesterol and Atherosclerosis. Scientific American. 1984, 251 (3): 52–60. PMID 6390676. doi:10.1038/scientificamerican0984-52.
6. The Nobel Prize in Physiology or Medicine 1985 (新闻稿). The Royal Swedish Academy of Science. 1985 [2010-07-01]. （原始内容存档于2011-01-02）.
7. Low Density Lipoprotein Receptor. LOVD v.1.1.0 - Leiden Open Variation Database. [2015-01-26]. （原始内容存档于2016-01-28）.

延伸阅读

• Brown MS, Goldstein JL. Receptor-mediated endocytosis: insights from the lipoprotein receptor system.. Proc. Natl. Acad. Sci. U.S.A. 1979, 76 (7): 3330–7. PMC 383819 . PMID 226968. doi:10.1073/pnas.76.7.3330.
• Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.. Hum. Mutat. 1993, 1 (6): 445–66. PMID 1301956. doi:10.1002/humu.1380010602.
• Fogelman AM, Van Lenten BJ, Warden C; et al. Macrophage lipoprotein receptors.. J. Cell Sci. Suppl. 1989, 9: 135–49. PMID 2855802. 引文格式1维护：显式使用等标签 (link)
• Barrett PH, Watts GF. Shifting the LDL-receptor paradigm in familial hypercholesterolemia: novel insights from recent kinetic studies of apolipoprotein B-100 metabolism.. Atherosclerosis. Supplements. 2002, 2 (3): 1–4. PMID 11923121. doi:10.1016/S1567-5688(01)00012-5.
• May P, Bock HH, Herz J. Integration of endocytosis and signal transduction by lipoprotein receptors.. Sci. STKE. 2003, 2003 (176): PE12. PMID 12671190. doi:10.1126/stke.2003.176.pe12.
• Gent J, Braakman I. Low-density lipoprotein receptor structure and folding.. Cell. Mol. Life Sci. 2004, 61 (19-20): 2461–70. PMID 15526154. doi:10.1007/s00018-004-4090-3.

外部链接

• Description of LDL receptor pathway at the Brown - Goldstein Laboratory webpage（页面存档备份，存于互联网档案馆）
• 医学主题词表（MeSH）：LDL+Receptor