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Aliases for LDLR Gene

Aliases for LDLR Gene

  • Low Density Lipoprotein Receptor 2 3 5
  • LDL Receptor 3 4
  • Low-Density Lipoprotein Receptor Class A Domain-Containing Protein 3 3
  • Low-Density Lipoprotein Receptor 3
  • Familial Hypercholesterolemia 2
  • LDLCQ2 3
  • FHC 3
  • FH 3

External Ids for LDLR Gene

Previous GeneCards Identifiers for LDLR Gene

  • GC19P011331
  • GC19P011045
  • GC19P011200
  • GC19P010777

Summaries for LDLR Gene

Entrez Gene Summary for LDLR Gene

  • 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]

GeneCards Summary for LDLR Gene

LDLR (Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with LDLR include Hypercholesterolemia, Familial and Homozygous Familial Hypercholesterolemia. Among its related pathways are Aldosterone synthesis and secretion and DNA Damage Response (only ATM dependent). Gene Ontology (GO) annotations related to this gene include calcium ion binding and low-density lipoprotein particle binding. An important paralog of this gene is LRP8.

UniProtKB/Swiss-Prot for LDLR Gene

  • 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 (PubMed:10535997, PubMed:12615904). Acts as a receptor for vesicular stomatitis virus (PubMed:23589850). In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells (PubMed:11100124).

Gene Wiki entry for LDLR Gene

Additional gene information for LDLR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LDLR Gene

Genomics for LDLR Gene

GeneHancer (GH) Regulatory Elements for LDLR Gene

Promoters and enhancers for LDLR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I011086 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 553.4 +3.0 3008 11 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC LDLR ILF3 RAVER1 ZNF491 ZNF441 KRI1 ZNF700 ZNF844 ZNF627 PPAN
GH19I011557 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 1.7 +470.2 470199 3.2 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 ELOF1 ZNF627 PRKCSH ZNF700 ZNF136 ZNF799 ZNF564 KRI1 ZNF20 ZNF44
GH19I011129 Enhancer 1.1 ENCODE dbSUPER 0.3 +41.4 41353 2.8 HDGF SMAD1 FOXA2 ARID4B DMAP1 ZNF2 ZNF48 ZNF121 POLR2B E2F8 SPC24 MIR6886 LDLR
GH19I011105 Enhancer 0.8 ENCODE dbSUPER 0.4 +17.1 17112 1.4 SCRT1 SMAD5 REST POLR2B POLR2A SCRT2 RCOR1 SUPT5H CHD2 SPC24 TMEM205 MIR6886 LDLR
GH19I011099 Enhancer 0.7 ENCODE dbSUPER 0.4 +10.7 10743 1.2 ZNF121 SMAD5 POLR2A SUPT5H SETDB1 LDLR MIR6886
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LDLR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LDLR gene promoter:

Genomic Locations for LDLR Gene

Genomic Locations for LDLR Gene
chr19:11,089,362-11,133,830
(GRCh38/hg38)
Size:
44,469 bases
Orientation:
Plus strand
chr19:11,200,038-11,244,506
(GRCh37/hg19)

Genomic View for LDLR Gene

Genes around LDLR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LDLR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LDLR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LDLR Gene

Proteins for LDLR Gene

  • Protein details for LDLR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01130-LDLR_HUMAN
    Recommended name:
    Low-density lipoprotein receptor
    Protein Accession:
    P01130
    Secondary Accessions:
    • B4DII3
    • B4DJZ8
    • B4DR00
    • B4DTQ3
    • C0JYY8
    • H0YLU8
    • H0YNT7
    • Q53ZD9
    • Q59FQ1
    • Q9UDH7

    Protein attributes for LDLR Gene

    Size:
    860 amino acids
    Molecular mass:
    95376 Da
    Quaternary structure:
    • Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif (By similarity). Interacts (via NPXY motif) with LDLRAP1 (via PID domain) (PubMed:12221107, PubMed:22509010). Interacts with ARRB1 (PubMed:12944399). Interacts with SNX17 (PubMed:14739284). Interacts with the full-length immature form of PCSK9 (via C-terminus) (PubMed:17461796, PubMed:21149300).
    • (Microbial infection) Interacts with vesicular stomatitis virus glycoprotein.
    • (Microbial infection) May interact with HIV-1 Tat.
    SequenceCaution:
    • Sequence=BAD92646.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LDLR Gene

    Alternative splice isoforms for LDLR Gene

neXtProt entry for LDLR Gene

Post-translational modifications for LDLR Gene

  • N- and O-glycosylated.
  • Ubiquitinated by MYLIP leading to degradation.
  • Glycosylation at isoforms=2, 3, 597, isoforms=4, 5, 6156, posLast=272272, posLast=515515, posLast=657657, isoforms=3, 4, 5, 6721, posLast=724724, isoforms=2, 3, 4, 5, 6732, posLast=738738, isoforms=2, 3, 4, 5, 6741, posLast=742742, posLast=743743, and posLast=750750

No data available for DME Specific Peptides for LDLR Gene

Domains & Families for LDLR Gene

Gene Families for LDLR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P01130

UniProtKB/Swiss-Prot:

LDLR_HUMAN :
  • The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
  • Belongs to the LDLR family.
Domain:
  • The NPXY motif mediates the interaction with the clathrin adapter DAB2 and with LDLRAP1 which are involved in receptor internalization. A few residues outside the motif also play a role in the interaction.
Family:
  • Belongs to the LDLR family.
genes like me logo Genes that share domains with LDLR: view

Function for LDLR Gene

Molecular function for LDLR Gene

GENATLAS Biochemistry:
lipoprotein,low density,receptor
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins (PubMed:10535997, PubMed:12615904). Acts as a receptor for vesicular stomatitis virus (PubMed:23589850). In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells (PubMed:11100124).

Phenotypes From GWAS Catalog for LDLR Gene

Gene Ontology (GO) - Molecular Function for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IEA --
GO:0001618 virus receptor activity IEA --
GO:0002020 protease binding IPI 22081141
GO:0005041 low-density lipoprotein receptor activity IMP,TAS 20005821
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with LDLR: view
genes like me logo Genes that share phenotypes with LDLR: view

Human Phenotype Ontology for LDLR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LDLR Gene

MGI Knock Outs for LDLR:

miRNA for LDLR Gene

miRTarBase miRNAs that target LDLR

Clone Products

  • Addgene plasmids for LDLR

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LDLR Gene

Localization for LDLR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LDLR Gene

Cell membrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit. Golgi apparatus. Early endosome. Late endosome. Lysosome. Note=Rapidly endocytosed upon ligand binding. {ECO:0000269 PubMed:3104336}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LDLR gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
golgi apparatus 5
endosome 5
peroxisome 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005622 intracellular ISS --
GO:0005764 lysosome IDA,IEA 15166224
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 15166224
genes like me logo Genes that share ontologies with LDLR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LDLR Gene

Pathways & Interactions for LDLR Gene

genes like me logo Genes that share pathways with LDLR: view

SIGNOR curated interactions for LDLR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 6299582
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0006897 endocytosis TAS 12671190
GO:0006898 receptor-mediated endocytosis ISS --
genes like me logo Genes that share ontologies with LDLR: view

Drugs & Compounds for LDLR Gene

(91) Drugs for LDLR Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 68
Pravastatin Approved Pharma Competitive, Inhibitor 154
Rosuvastatin Approved Pharma Competitive, Inhibitor 0
Simvastatin Approved Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor 537

(45) Additional Compounds for LDLR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Porfimer
  • DHP ether
  • Dihematoporphyrin ether
87806-31-3

(1) Tocris Compounds for LDLR Gene

Compound Action Cas Number
COG 133 ApoE peptide fragment 514200-66-9
genes like me logo Genes that share compounds with LDLR: view

Transcripts for LDLR Gene

mRNA/cDNA for LDLR Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LDLR Gene

Low density lipoprotein receptor:
Representative Sequences:

Clone Products

  • Addgene plasmids for LDLR

Alternative Splicing Database (ASD) splice patterns (SP) for LDLR Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^
SP1: - - - -
SP2: - - - -
SP3: - -
SP4:
SP5: -
SP6:
SP7: - - -
SP8:

ExUns: 18a · 18b · 18c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for LDLR Gene

GeneLoc Exon Structure for
LDLR
ECgene alternative splicing isoforms for
LDLR

Expression for LDLR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LDLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LDLR Gene

This gene is overexpressed in Adrenal Gland (x4.6).

Protein differential expression in normal tissues from HIPED for LDLR Gene

This gene is overexpressed in Breast (57.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LDLR Gene



NURSA nuclear receptor signaling pathways regulating expression of LDLR Gene:

LDLR

SOURCE GeneReport for Unigene cluster for LDLR Gene:

Hs.213289

Evidence on tissue expression from TISSUES for LDLR Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Bone marrow(4.5)
  • Lung(4.5)
  • Intestine(3.4)
  • Pancreas(3.1)
  • Blood(2.8)
  • Kidney(2.8)
  • Heart(2.5)
  • Muscle(2.5)
  • Adrenal gland(2.4)
  • Skin(2.2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LDLR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LDLR: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for LDLR Gene

Orthologs for LDLR Gene

This gene was present in the common ancestor of animals.

Orthologs for LDLR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LDLR 33 34
  • 98.57 (n)
cow
(Bos Taurus)
Mammalia LDLR 33 34
  • 83.29 (n)
dog
(Canis familiaris)
Mammalia LDLR 33 34
  • 82.69 (n)
mouse
(Mus musculus)
Mammalia Ldlr 33 16 34
  • 79.75 (n)
rat
(Rattus norvegicus)
Mammalia Ldlr 33
  • 78.33 (n)
oppossum
(Monodelphis domestica)
Mammalia LDLR 34
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLR 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 13 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LDLR 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495826 33
  • 66.95 (n)
Str.17411 33
African clawed frog
(Xenopus laevis)
Amphibia LOC397757 33
zebrafish
(Danio rerio)
Actinopterygii ldlra 33
  • 63 (n)
ldlr 34
  • 53 (a)
OneToMany
LDLR (3 of 3) 34
  • 53 (a)
OneToMany
LDLR (1 of 3) 34
  • 33 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.34 33
fruit fly
(Drosophila melanogaster)
Insecta CG4861 35
  • 39 (a)
LpR1 34
  • 31 (a)
ManyToMany
LpR2 34
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T13C2.6 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
ManyToMany
Species where no ortholog for LDLR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LDLR Gene

ENSEMBL:
Gene Tree for LDLR (if available)
TreeFam:
Gene Tree for LDLR (if available)

Paralogs for LDLR Gene

Paralogs for LDLR Gene

genes like me logo Genes that share paralogs with LDLR: view

Variants for LDLR Gene

Sequence variations from dbSNP and Humsavar for LDLR Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1003723 benign, Familial hypercholesterolemia 11,113,505(+) C/A/T intron_variant
rs1009426672 uncertain-significance, Familial hypercholesterolemia 11,133,109(+) A/C/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1013147010 pathogenic, Familial hypercholesterolemia 11,105,492(+) C/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs10401667 benign, Familial hypercholesterolemia 11,110,880(+) T/G intron_variant
rs10409044 likely-benign, Familial hypercholesterolemia 11,132,298(+) G/C 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LDLR Gene

Variant ID Type Subtype PubMed ID
nsv833751 CNV loss 17160897
nsv476545 CNV novel sequence insertion 20440878
nsv470126 CNV loss 18288195
nsv1071910 CNV deletion 25765185
esv3364262 CNV insertion 20981092

Variation tolerance for LDLR Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LDLR Gene

Human Gene Mutation Database (HGMD)
LDLR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LDLR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LDLR Gene

Disorders for LDLR Gene

MalaCards: The human disease database

(37) MalaCards diseases for LDLR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search LDLR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LDLR_HUMAN
  • Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). {ECO:0000269 PubMed:10090484, ECO:0000269 PubMed:10206683, ECO:0000269 PubMed:10422803, ECO:0000269 PubMed:10447263, ECO:0000269 PubMed:10532689, ECO:0000269 PubMed:10660340, ECO:0000269 PubMed:10882754, ECO:0000269 PubMed:10978268, ECO:0000269 PubMed:10980548, ECO:0000269 PubMed:11298688, ECO:0000269 PubMed:11462246, ECO:0000269 PubMed:1446662, ECO:0000269 PubMed:1464748, ECO:0000269 PubMed:17142622, ECO:0000269 PubMed:17347910, ECO:0000269 PubMed:1867200, ECO:0000269 PubMed:19318025, ECO:0000269 PubMed:19319977, ECO:0000269 PubMed:22160468, ECO:0000269 PubMed:22509010, ECO:0000269 PubMed:2318961, ECO:0000269 PubMed:24529145, ECO:0000269 PubMed:25378237, ECO:0000269 PubMed:25545329, ECO:0000269 PubMed:2569482, ECO:0000269 PubMed:2726768, ECO:0000269 PubMed:3263645, ECO:0000269 PubMed:3955657, ECO:0000269 PubMed:7550239, ECO:0000269 PubMed:7573037, ECO:0000269 PubMed:7583548, ECO:0000269 PubMed:7635461, ECO:0000269 PubMed:7635482, ECO:0000269 PubMed:7649546, ECO:0000269 PubMed:7649549, ECO:0000269 PubMed:8168830, ECO:0000269 PubMed:8347689, ECO:0000269 PubMed:8462973, ECO:0000269 PubMed:8664907, ECO:0000269 PubMed:8740918, ECO:0000269 PubMed:9026534, ECO:0000269 PubMed:9104431, ECO:0000269 PubMed:9143924, ECO:0000269 PubMed:9254862, ECO:0000269 PubMed:9259195, ECO:0000269 PubMed:9452094, ECO:0000269 PubMed:9452095, ECO:0000269 PubMed:9452118, ECO:0000269 PubMed:9654205, ECO:0000269 PubMed:9678702, ECO:0000269 PubMed:9852677, ECO:0000269 Ref.71}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LDLR Gene

familial hypercholesterolemia,hyperlipoproteinemia,type IIa,characterized by a selective increase of LDL particles in plasma giving rise to tendon and skin xanthomas,arcus corneae and premature mortality from cardiovascular complications,autosomal dominant with a gene dosage effect and a more severe phenotype in homozygotes

Additional Disease Information for LDLR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LDLR: view

Publications for LDLR Gene

  1. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. (PMID: 20145306) Chmara M … Limon J (Journal of applied genetics 2010) 3 22 44 58
  2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud PJ … BRIGHT Consortium (American journal of human genetics 2009) 3 22 44 58
  3. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. (PMID: 19318025) Alonso R … Mata P (Clinical biochemistry 2009) 3 4 44 58
  4. The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene. (PMID: 19319977) Abifadel M … Boileau C (Human mutation 2009) 3 4 44 58
  5. Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia. (PMID: 20065615) Real JT … Carmena R (Journal of atherosclerosis and thrombosis 2009) 3 22 44 58

Products for LDLR Gene