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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 Metabolism of fat-soluble vitamins and Statin Pathway. 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

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

Genomics for LDLR Gene

Regulatory Elements for LDLR Gene

Enhancers for LDLR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G011086 1.8 FANTOM5 ENCODE dbSUPER 3.4 +3.0 3009 11.0 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ZNF844 RAVER1 PRKCSH ZNF700 ZNF491 C19orf38 ZNF627 ZNF653 ZNF441 ZGLP1
GH19G011557 1.5 FANTOM5 ENCODE 1.7 +470.2 470200 3.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 PRKCSH ZNF700 ZNF136 ZNF799 ZNF564 ZNF44 CCDC159 ELOF1 ACP5 LDLR
GH19G011099 1.1 ENCODE dbSUPER 0.4 +10.7 10743 1.2 ZSCAN5A ZSCAN26 ZNF792 INSM2 BCL11B ZEB1 ZNF121 ZNF23 CTBP1 ZNF366 ZNF627 ZNF441 ZNF439 ZNF788 ZNF844 ILF3-AS1 CDC37 ZNF491 ZNF700 ZNF433
GH19G011105 0.9 ENCODE dbSUPER 0.4 +17.1 17112 1.4 CTCF SCRT1 CBX3 SMAD5 REST RAD21 POLR2A THRAP3 SCRT2 RBFOX2 SPC24 TMEM205 MIR6886 LDLR
GH19G011106 0.8 ENCODE dbSUPER 0.4 +16.1 16098 0.2 SMAD5 POLR2A AGO1 ZBED1 RBFOX2 SUPT5H MIR6886 LDLR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LDLR on UCSC Golden Path with GeneCards custom track

Promoters for LDLR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107132 1338 3401 CREB3L1 DMAP1 YY1 SLC30A9 SP3 NFYC TBX21 RCOR2 GLIS1 NBN

Genomic Location for LDLR Gene

Chromosome:
19
Start:
11,089,362 bp from pter
End:
11,133,830 bp from pter
Size:
44,469 bases
Orientation:
Plus strand

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 posLast=9797, isoforms=4, 5, 6156, isoforms=2, 4, 5, 6272, posLast=515515, isoforms=2, 3, 4, 5, 6657, isoforms=3, 4, 5, 6721, isoforms=3, 4, 5, 6724, posLast=732732, isoforms=2, 3, 4, 5, 6738, isoforms=2, 3, 4, 5, 6741, isoforms=2, 3, 4, 5, 6742, isoforms=2, 3, 4, 5, 6743, and isoforms=2, 3, 4, 5, 6750
  • Modification sites at PhosphoSitePlus

Antibody Products

Assay Products

  • Cloud-Clone Corp Assay Kits for LDLR

No data available for DME Specific Peptides for LDLR Gene

Domains & Families for LDLR Gene

Gene Families for LDLR Gene

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).

Gene Ontology (GO) - Molecular Function for LDLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0001948 glycoprotein binding IPI 10571240
GO:0002020 protease binding IPI 22081141
GO:0005041 low-density lipoprotein receptor activity IMP,TAS 6299582
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:

Animal Model Products

CRISPR Products

miRNA for LDLR Gene

miRTarBase miRNAs that target 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:0005764 lysosome IDA,IEA 15166224
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 15166224
GO:0005770 late endosome IDA,IEA 17461796
genes like me logo Genes that share ontologies with LDLR: view

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 TAS --
genes like me logo Genes that share ontologies with LDLR: view

Drugs & Compounds for LDLR Gene

(87) 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
Porfimer Approved, Investigational Pharma Target, other/unknown 0
atorvastatin Approved Pharma Competitive, Inhibitor 0
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 63
Pravastatin Approved Pharma Competitive, Inhibitor 150
Rosuvastatin Approved Pharma Competitive, Inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4

(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:

CRISPR Products

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(2.1)
  • 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
Organs:
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

Primer Products

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 34 35
  • 98.57 (n)
cow
(Bos Taurus)
Mammalia LDLR 34 35
  • 83.29 (n)
dog
(Canis familiaris)
Mammalia LDLR 34 35
  • 82.69 (n)
mouse
(Mus musculus)
Mammalia Ldlr 34 16 35
  • 79.75 (n)
rat
(Rattus norvegicus)
Mammalia Ldlr 34
  • 78.33 (n)
oppossum
(Monodelphis domestica)
Mammalia LDLR 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LDLR 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 13 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia LDLR 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495826 34
  • 66.95 (n)
Str.17411 34
African clawed frog
(Xenopus laevis)
Amphibia LOC397757 34
zebrafish
(Danio rerio)
Actinopterygii ldlra 34
  • 63 (n)
ldlr 35
  • 53 (a)
OneToMany
LDLR (3 of 3) 35
  • 53 (a)
OneToMany
LDLR (1 of 3) 35
  • 33 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.34 34
fruit fly
(Drosophila melanogaster)
Insecta CG4861 36
  • 39 (a)
LpR1 35
  • 31 (a)
ManyToMany
LpR2 35
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T13C2.6 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs11547917 Pathogenic, Familial hypercholesterolemia (FH) [MIM:143890] 11,107,491(+) CTGGT(A/C/G/T)AGATG nc-transcript-variant, reference, missense
rs121908025 other, Familial hypercholesterolemia (FH) [MIM:143890] 11,102,732(+) AGTTC(G/T)GGAGG intron-variant, nc-transcript-variant, reference, missense
rs121908026 other, Familial hypercholesterolemia (FH) [MIM:143890] 11,105,436(+) TGGCT(C/T)GGATG intron-variant, nc-transcript-variant, reference, missense
rs121908028 other, Familial hypercholesterolemia (FH) [MIM:143890] 11,105,587(+) TCTGA(C/G/T)GAGGA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs121908029 Likely pathogenic, Familial hypercholesterolemia (FH) [MIM:143890], Familial hypercholesterolemia (FH) [MIM:143890] 11,105,588(+) CTGAC(A/C/G/T)AGGAA intron-variant, nc-transcript-variant, reference, missense

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

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

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
homozygous familial hypercholesterolemia
  • hofh
ldlr-related familial hypercholesterolemia, autosomal dominant
  • hyperlipoproteinemia type iia
stomatitis
aortic atherosclerosis
  • atherosclerosis of aorta
- 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

Relevant External Links for LDLR

Genetic Association Database (GAD)
LDLR
Human Genome Epidemiology (HuGE) Navigator
LDLR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LDLR
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. (J. Appl. Genet. 2010) 3 22 46 64
  2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3 22 46 64
  3. Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia. (PMID: 20065615) Real J.T. … Carmena R. (J. Atheroscler. Thromb. 2009) 3 22 46 64
  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. (Hum. Mutat. 2009) 3 4 46 64
  5. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. (PMID: 19318025) Alonso R. … Mata P. (Clin. Biochem. 2009) 3 4 46 64

Products for LDLR Gene

  • Addgene plasmids for LDLR

Sources for LDLR Gene

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