Details for: LDLR
Associated with
Cells (max top 100)
(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 10.27
Marker Score: 182289 - Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.35
Marker Score: 15314 - Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 2.3
Marker Score: 5644 - Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 2.29
Marker Score: 14605 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 2.25
Marker Score: 2406 - Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.18
Marker Score: 4955 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 2.09
Marker Score: 8065 - Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 2.05
Marker Score: 706 - Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: 1.94
Marker Score: 2813 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.89
Marker Score: 4625 - Cell Name: lactocyte (CL0002325)
Fold Change: 1.89
Marker Score: 30380 - Cell Name: pneumocyte (CL0000322)
Fold Change: 1.84
Marker Score: 2961 - Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 1.84
Marker Score: 1447 - Cell Name: type I pneumocyte (CL0002062)
Fold Change: 1.83
Marker Score: 2201 - Cell Name: chromaffin cell (CL0000166)
Fold Change: 1.79
Marker Score: 2524 - Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 1.76
Marker Score: 866 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.7
Marker Score: 422 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.69
Marker Score: 1681 - Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 1.63
Marker Score: 472 - Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 1.63
Marker Score: 1092 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 1.63
Marker Score: 3713 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.61
Marker Score: 1698 - Cell Name: hepatoblast (CL0005026)
Fold Change: 1.61
Marker Score: 5273 - Cell Name: Leydig cell (CL0000178)
Fold Change: 1.56
Marker Score: 1679 - Cell Name: cell in vitro (CL0001034)
Fold Change: 1.55
Marker Score: 53760 - Cell Name: acinar cell (CL0000622)
Fold Change: 1.54
Marker Score: 1084 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 1.51
Marker Score: 5594 - Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.5
Marker Score: 699 - Cell Name: club cell (CL0000158)
Fold Change: 1.5
Marker Score: 1747 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.49
Marker Score: 50767 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.48
Marker Score: 2176 - Cell Name: lung goblet cell (CL1000143)
Fold Change: 1.47
Marker Score: 423 - Cell Name: mural cell (CL0008034)
Fold Change: 1.46
Marker Score: 167078 - Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 1.45
Marker Score: 7645 - Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 1.45
Marker Score: 584 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 1.42
Marker Score: 11116.5 - Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 1.4
Marker Score: 1201 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 1.38
Marker Score: 1373 - Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 1.38
Marker Score: 620 - Cell Name: midzonal region hepatocyte (CL0019028)
Fold Change: 1.38
Marker Score: 5940 - Cell Name: colon epithelial cell (CL0011108)
Fold Change: 1.37
Marker Score: 4314 - Cell Name: secretory cell (CL0000151)
Fold Change: 1.37
Marker Score: 2503 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.34
Marker Score: 652 - Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.34
Marker Score: 1476.5 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 1.33
Marker Score: 2244 - Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 1.3
Marker Score: 6388.5 - Cell Name: intestine goblet cell (CL0019031)
Fold Change: 1.29
Marker Score: 1240 - Cell Name: stem cell of epidermis (CL1000428)
Fold Change: 1.29
Marker Score: 437 - Cell Name: keratinocyte (CL0000312)
Fold Change: 1.28
Marker Score: 1065.5 - Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 1.23
Marker Score: 385 - Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 1.22
Marker Score: 2432 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.21
Marker Score: 723 - Cell Name: decidual cell (CL2000002)
Fold Change: 1.2
Marker Score: 5158 - Cell Name: basal cell (CL0000646)
Fold Change: 1.18
Marker Score: 1521 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 1.17
Marker Score: 6317 - Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.17
Marker Score: 797 - Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 1.17
Marker Score: 2965 - Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 1.16
Marker Score: 2053 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 1.16
Marker Score: 677 - Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 1.15
Marker Score: 670 - Cell Name: epithelial cell (CL0000066)
Fold Change: 1.15
Marker Score: 1823 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.13
Marker Score: 2293 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: 1.11
Marker Score: 320.5 - Cell Name: taste receptor cell (CL0000209)
Fold Change: 1.1
Marker Score: 950 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: 1.09
Marker Score: 7029 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 1.08
Marker Score: 631 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 1.05
Marker Score: 960 - Cell Name: enterocyte (CL0000584)
Fold Change: 1.04
Marker Score: 5012 - Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.04
Marker Score: 436 - Cell Name: malignant cell (CL0001064)
Fold Change: 1.03
Marker Score: 13817 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71667 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 0.99
Marker Score: 47891 - Cell Name: mucus secreting cell (CL0000319)
Fold Change: 0.99
Marker Score: 251 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30386 - Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 0.98
Marker Score: 8481 - Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 0.97
Marker Score: 54440 - Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.97
Marker Score: 264 - Cell Name: cholangiocyte (CL1000488)
Fold Change: 0.95
Marker Score: 355 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.94
Marker Score: 2398 - Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 0.94
Marker Score: 1226 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.94
Marker Score: 485 - Cell Name: sympathetic neuron (CL0011103)
Fold Change: 0.94
Marker Score: 310 - Cell Name: vasa recta ascending limb cell (CL1001131)
Fold Change: 0.94
Marker Score: 248 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.93
Marker Score: 3909 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.93
Marker Score: 441 - Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 0.93
Marker Score: 330 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.92
Marker Score: 1490 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.92
Marker Score: 5224 - Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 0.91
Marker Score: 240 - Cell Name: subcutaneous fat cell (CL0002521)
Fold Change: 0.91
Marker Score: 331 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.9
Marker Score: 2702 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.9
Marker Score: 542 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.9
Marker Score: 14091 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.89
Marker Score: 1814 - Cell Name: hepatocyte (CL0000182)
Fold Change: 0.89
Marker Score: 609 - Cell Name: endothelial cell (CL0000115)
Fold Change: 0.88
Marker Score: 793 - Cell Name: lung secretory cell (CL1000272)
Fold Change: 0.88
Marker Score: 789 - Cell Name: stromal cell (CL0000499)
Fold Change: 0.88
Marker Score: 1029 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5293 - Cell Name: smooth muscle cell of large intestine (CL1000279)
Fold Change: 0.87
Marker Score: 330
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Other Information
Genular Protein ID: 1425334903
Symbol: LDLR_HUMAN
Name: Low-density lipoprotein receptor
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6091915
Title: The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA.
PubMed ID: 6091915
PubMed ID: 2988123
Title: The LDL receptor gene: a mosaic of exons shared with different proteins.
PubMed ID: 2988123
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15057824
Title: The DNA sequence and biology of human chromosome 19.
PubMed ID: 15057824
DOI: 10.1038/nature02399
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8127891
Title: Members of the low density lipoprotein receptor family mediate cell entry of a minor-group common cold virus.
PubMed ID: 8127891
PubMed ID: 3005267
Title: Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts.
PubMed ID: 3005267
PubMed ID: 3104336
Title: The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis.
PubMed ID: 3104336
PubMed ID: 10535997
Title: Hepatitis C virus and other flaviviridae viruses enter cells via low density lipoprotein receptor.
PubMed ID: 10535997
PubMed ID: 11100124
Title: Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands.
PubMed ID: 11100124
DOI: 10.1038/82199
PubMed ID: 12221107
Title: ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.
PubMed ID: 12221107
PubMed ID: 12944399
Title: The adaptor protein beta-arrestin2 enhances endocytosis of the low density lipoprotein receptor.
PubMed ID: 12944399
PubMed ID: 12754519
Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
PubMed ID: 12754519
DOI: 10.1038/nbt827
PubMed ID: 12615904
Title: Infectious hepatitis C virus pseudo-particles containing functional E1-E2 envelope protein complexes.
PubMed ID: 12615904
DOI: 10.1084/jem.20021756
PubMed ID: 14739284
Title: Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17.
PubMed ID: 14739284
PubMed ID: 16335952
Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
PubMed ID: 16335952
DOI: 10.1021/pr0502065
PubMed ID: 15592455
Title: Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
PubMed ID: 15592455
DOI: 10.1038/nbt1046
PubMed ID: 17461796
Title: The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.
PubMed ID: 17461796
PubMed ID: 19159218
Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
PubMed ID: 19159218
DOI: 10.1021/pr8008012
PubMed ID: 19520913
Title: LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor.
PubMed ID: 19520913
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 21149300
Title: A two-step binding model of PCSK9 interaction with the low density lipoprotein receptor.
PubMed ID: 21149300
PubMed ID: 23589850
Title: LDL receptor and its family members serve as the cellular receptors for vesicular stomatitis virus.
PubMed ID: 23589850
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 31160825
Title: Sulfated glycosaminoglycans and low-density lipoprotein receptor contribute to Clostridium difficile toxin A entry into cells.
PubMed ID: 31160825
PubMed ID: 7603991
Title: Three-dimensional structure of a cysteine-rich repeat from the low-density lipoprotein receptor.
PubMed ID: 7603991
PubMed ID: 7578052
Title: Three-dimensional structure of the second cysteine-rich repeat from the human low-density lipoprotein receptor.
PubMed ID: 7578052
DOI: 10.1021/bi00044a025
PubMed ID: 9262405
Title: Molecular basis of familial hypercholesterolaemia from structure of LDL receptor module.
PubMed ID: 9262405
DOI: 10.1038/41798
PubMed ID: 10933493
Title: NMR structure of a concatemer of the first and second ligand-binding modules of the human low-density lipoprotein receptor.
PubMed ID: 10933493
DOI: 10.1110/ps.9.7.1282
PubMed ID: 12459547
Title: Structure of the LDL receptor extracellular domain at endosomal pH.
PubMed ID: 12459547
PubMed ID: 22509010
Title: Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
PubMed ID: 22509010
PubMed ID: 1301956
Title: Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
PubMed ID: 1301956
PubMed ID: 9016531
Title: Software and database for the analysis of mutations in the human LDL receptor gene.
PubMed ID: 9016531
DOI: 10.1093/nar/25.1.172
PubMed ID: 3263645
Title: Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
PubMed ID: 3263645
PubMed ID: 2569482
Title: Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners.
PubMed ID: 2569482
DOI: 10.1172/jci114258
PubMed ID: 3955657
Title: The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.
PubMed ID: 3955657
PubMed ID: 8347689
Title: Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
PubMed ID: 8347689
PubMed ID: 2318961
Title: Common low-density lipoprotein receptor mutations in the French Canadian population.
PubMed ID: 2318961
DOI: 10.1172/jci114531
PubMed ID: 1446662
Title: A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
PubMed ID: 1446662
PubMed ID: 1867200
Title: A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
PubMed ID: 1867200
PubMed ID: 8462973
Title: A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
PubMed ID: 8462973
DOI: 10.1007/bf00222714
PubMed ID: 8168830
Title: A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
PubMed ID: 8168830
DOI: 10.1007/bf00202819
PubMed ID: 2726768
Title: Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
PubMed ID: 2726768
PubMed ID: 1464748
Title: Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
PubMed ID: 1464748
PubMed ID: 7573037
Title: Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
PubMed ID: 7573037
PubMed ID: 7583548
Title: Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
PubMed ID: 7583548
PubMed ID: 7550239
Title: Identification of a mutation, N543H, in exon 11 of the low-density lipoprotein receptor gene in a French family with familial hypercholesterolemia.
PubMed ID: 7550239
PubMed ID: 7635461
Title: An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia.
PubMed ID: 7635461
DOI: 10.1007/bf00207370
PubMed ID: 7635482
Title: Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.
PubMed ID: 7635482
DOI: 10.1007/bf00207391
PubMed ID: 7649546
Title: Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.
PubMed ID: 7649546
DOI: 10.1007/bf00210411
PubMed ID: 7649549
Title: Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
PubMed ID: 7649549
DOI: 10.1007/bf00210415
PubMed ID: 8740918
Title: Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
PubMed ID: 8740918
PubMed ID: 8664907
Title: A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
PubMed ID: 8664907
DOI: 10.1002/(sici)1098-1004(1996)7:1<70::aid-humu12>3.0.co;2-p
PubMed ID: 9026534
Title: Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
PubMed ID: 9026534
PubMed ID: 9254862
Title: Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics.
PubMed ID: 9254862
PubMed ID: 9143924
Title: Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
PubMed ID: 9143924
DOI: 10.1002/(sici)1098-1004(1997)9:5<437::aid-humu10>3.0.co;2-3
PubMed ID: 9259195
Title: Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.
PubMed ID: 9259195
DOI: 10.1002/(sici)1098-1004(1997)10:2<116::aid-humu4>3.0.co;2-i
PubMed ID: 9104431
Title: Molecular genetics of familial hypercholesterolaemia in Norway.
PubMed ID: 9104431
PubMed ID: 9654205
Title: LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
PubMed ID: 9654205
PubMed ID: 9452094
Title: Identification of three mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
PubMed ID: 9452094
PubMed ID: 9452095
Title: Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
PubMed ID: 9452095
PubMed ID: 9452118
Title: Possible common mutations in the low density lipoprotein receptor gene in Chinese.
PubMed ID: 9452118
PubMed ID: 10206683
Title: Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia.
PubMed ID: 10206683
DOI: 10.1002/(sici)1098-1004(1998)11:5<413::aid-humu16>3.0.co;2-i
PubMed ID: 10660340
Title: Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia.
PubMed ID: 10660340
PubMed ID: 9852677
Title: Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
PubMed ID: 9852677
PubMed ID: 9678702
Title: Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland.
PubMed ID: 9678702
DOI: 10.1136/jmg.35.7.573
PubMed ID: 10532689
Title: Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.
PubMed ID: 10532689
PubMed ID: 10422803
Title: An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
PubMed ID: 10422803
PubMed ID: 10090484
Title: Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations.
PubMed ID: 10090484
DOI: 10.1002/(sici)1098-1004(1999)13:3<257::aid-humu15>3.0.co;2-a
PubMed ID: 10447263
Title: Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia.
PubMed ID: 10447263
DOI: 10.1002/(sici)1098-1004(1999)14:1<87::aid-humu14>3.0.co;2-n
PubMed ID: 10391209
Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.
PubMed ID: 10391209
DOI: 10.1038/10290
PubMed ID: 10978268
Title: Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.
PubMed ID: 10978268
PubMed ID: 10980548
Title: Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
PubMed ID: 10980548
DOI: 10.1002/1098-1004(200009)16:3<277::aid-humu24>3.0.co;2-y
PubMed ID: 10882754
Title: Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.
PubMed ID: 10882754
DOI: 10.1136/jmg.37.7.514
PubMed ID: 11298688
Title: A novel mutation in exon 2 of the low-density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia.
PubMed ID: 11298688
PubMed ID: 11462246
Title: Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
PubMed ID: 11462246
DOI: 10.1002/humu.1171
PubMed ID: 17142622
Title: Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
PubMed ID: 17142622
PubMed ID: 17347910
Title: Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
PubMed ID: 17347910
PubMed ID: 19318025
Title: Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.
PubMed ID: 19318025
PubMed ID: 19319977
Title: The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
PubMed ID: 19319977
DOI: 10.1002/humu.21002
PubMed ID: 21418584
Title: Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
PubMed ID: 21418584
PubMed ID: 22160468
Title: A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
PubMed ID: 22160468
PubMed ID: 24529145
Title: Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
PubMed ID: 24529145
PubMed ID: 25545329
Title: Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
PubMed ID: 25545329
PubMed ID: 25378237
Title: Functional characterization and classification of frequent low-density lipoprotein receptor variants.
PubMed ID: 25378237
DOI: 10.1002/humu.22721
Sequence Information:
- Length: 860
- Mass: 95376
- Checksum: A4C28E9B8BADAD5E
- Sequence:
MGPWGWKLRW TVALLLAAAG TAVGDRCERN EFQCQDGKCI SYKWVCDGSA ECQDGSDESQ ETCLSVTCKS GDFSCGGRVN RCIPQFWRCD GQVDCDNGSD EQGCPPKTCS QDEFRCHDGK CISRQFVCDS DRDCLDGSDE ASCPVLTCGP ASFQCNSSTC IPQLWACDND PDCEDGSDEW PQRCRGLYVF QGDSSPCSAF EFHCLSGECI HSSWRCDGGP DCKDKSDEEN CAVATCRPDE FQCSDGNCIH GSRQCDREYD CKDMSDEVGC VNVTLCEGPN KFKCHSGECI TLDKVCNMAR DCRDWSDEPI KECGTNECLD NNGGCSHVCN DLKIGYECLC PDGFQLVAQR RCEDIDECQD PDTCSQLCVN LEGGYKCQCE EGFQLDPHTK ACKAVGSIAY LFFTNRHEVR KMTLDRSEYT SLIPNLRNVV ALDTEVASNR IYWSDLSQRM ICSTQLDRAH GVSSYDTVIS RDIQAPDGLA VDWIHSNIYW TDSVLGTVSV ADTKGVKRKT LFRENGSKPR AIVVDPVHGF MYWTDWGTPA KIKKGGLNGV DIYSLVTENI QWPNGITLDL LSGRLYWVDS KLHSISSIDV NGGNRKTILE DEKRLAHPFS LAVFEDKVFW TDIINEAIFS ANRLTGSDVN LLAENLLSPE DMVLFHNLTQ PRGVNWCERT TLSNGGCQYL CLPAPQINPH SPKFTCACPD GMLLARDMRS CLTEAEAAVA TQETSTVRLK VSSTAVRTQH TTTRPVPDTS RLPGATPGLT TVEIVTMSHQ ALGDVAGRGN EKKPSSVRAL SIVLPIVLLV FLCLGVFLLW KNWRLKNINS INFDNPVYQK TTEDEVHICH NQDGYSYPSR QMVSLEDDVA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.