LDLR

Gene Information
 
Gene Symbol
LDLR
 
Aliases
FH, FHC, FHCL1, LDLCQ2
 
Entrez Gene ID
 
Gene Name
Low density lipoprotein receptor
 
Chromosomal Location
19p13.2
 
HGNC ID
 
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol 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, Sep 2010]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006629 Biological process Lipid metabolic process TAS 6299582, 10827173
GO:0006897 Biological process Endocytosis TAS 12671190
GO:0006898 Biological process Receptor-mediated endocytosis TAS 24825898
GO:0007616 Biological process Long-term memory IGI 24412220
GO:0030299 Biological process Intestinal cholesterol absorption IMP 17142622
Protein Information
 
Protein Name
Low-density lipoprotein receptor, LDL receptor, low-density lipoprotein receptor class A domain-containing protein 3
 
Function
Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. .; (Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins. .; (Microbial infection) Acts as a receptor for Vesicular stomatitis virus. .; (Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

Endocytosis
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
Bile secretion
Cholesterol metabolism
Toxoplasmosis
Hepatitis C

 

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Chylomicron clearance
LDL clearance

Interactions
 
STRING MINT IntAct
ENSP00000394560 P45984 P45984
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Ischemic Cardiomyopathy
Aortic Aneurysm
Arteriosclerosis
Atherosclerosis
Coronary heart disease
References
 

The effects of vitamin D supplementation on metabolic profiles and gene expression of insulin and lipid metabolism in infertile polycystic ovary syndrome candidates for in vitro fertilization.

Dastorani Majid, Aghadavod Esmat, Mirhosseini Naghmeh, Foroozanfard Fatemeh, Zadeh Modarres Shahrzad, Amiri Siavashani Mehrnush, Asemi Zatollah
Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. aghadavod_m@yahoo.com.| School of Public Health, University of Saskatchewan, Saskatoon, SK, Canada.| Department of Gynecology and Obstetrics, School of Medicine, Kashan University of Medical Sciences, Kashan, I.R, Iran.| Laser Application in Medical Science Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Taleghani Educational Hospital, IVF Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, I.R, Iran. asemi_r@yahoo.com.
Reprod Biol Endocrinol. 2018 Oct 4;16(1):94. doi: 10.1186/s12958-018-0413-3.

The Effects of Omega-3 Fatty Acids Supplementation on Gene Expression Involved in the Insulin and Lipid Signaling Pathway in Patients with Polycystic Ovary Syndrome.

Nasri Khadijeh, Hantoushzadeh Sedigheh, Aghadavod Esmat, Taghizadeh Mohsen, Asemi Zatollah
Maternal-Fetal & Neonatal Research Center and Breast Feeding Research Center, Tehran University of Medical Sciences, Tehran, Iran.| Department of Gynecology and Obstetrics, Endocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran.| Maternal-Fetal & Neonatal Research Center and Breast Feeding Research Center, Tehran University of Medical Sciences, Tehran, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, Iran.| Research Center for Biochemistry and Nutrition in Metabolic Diseases, Kashan University of Medical Sciences, Kashan, Iran.
Horm Metab Res. 2017 Jun;49(6):446-451. doi: 10.1055/s-0042-122782. Epub 2017 Feb

Hyperhomocysteinemia and hyperandrogenemia share PCSK9-LDLR pathway to disrupt lipid homeostasis in PCOS.

Mondal Kalyani, Chakraborty Pratip, Kabir Syed N
Reproductive Biology Research, CSIR-Indian Institute of Chemical Biology, Jadavpur, Kolkata, 700032, WB, India.| Institute of Reproductive Medicine, Salt Lake City, Kolkata, 700106, WB, India.| Reproductive Biology Research, CSIR-Indian Institute of Chemical Biology, Jadavpur, Kolkata, 700032, WB, India. Electronic address: snkabir@atgcdiagnostics.com.
Biochem Biophys Res Commun. 2018 Sep 3;503(1):8-13. doi:

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