Details for: LPL
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: hematopoietic stem cell (CL0000037)
Fold Change: 4.92
Marker Score: 2590 - Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 4.87
Marker Score: 3899 - Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 2.99
Marker Score: 66885 - Cell Name: subcutaneous fat cell (CL0002521)
Fold Change: 2.95
Marker Score: 1079 - Cell Name: fat cell (CL0000136)
Fold Change: 2.51
Marker Score: 1401 - Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.35
Marker Score: 60224 - Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.03
Marker Score: 13260 - Cell Name: elicited macrophage (CL0000861)
Fold Change: 1.53
Marker Score: 9286 - Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168820 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.34
Marker Score: 1332 - Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 1.3
Marker Score: 3481 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.28
Marker Score: 20048 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 1.2
Marker Score: 10568 - Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
Fold Change: 1.2
Marker Score: 316 - Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.2
Marker Score: 2437 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.16
Marker Score: 480 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.14
Marker Score: 4793 - Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 1.13
Marker Score: 1202 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 1.09
Marker Score: 36841 - Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.07
Marker Score: 1236 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251779 - Cell Name: osteoblast (CL0000062)
Fold Change: 1.04
Marker Score: 556.5 - Cell Name: cardiac neuron (CL0010022)
Fold Change: 1.01
Marker Score: 1258 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71798 - Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48023 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.98
Marker Score: 666 - Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 502 - Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 455 - Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.95
Marker Score: 5715 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2410 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.93
Marker Score: 318 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 369 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2734 - Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.9
Marker Score: 5131 - Cell Name: pneumocyte (CL0000322)
Fold Change: 0.9
Marker Score: 1440 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 321.5 - Cell Name: lymphocyte (CL0000542)
Fold Change: 0.89
Marker Score: 451 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5279 - Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.84
Marker Score: 3003.5 - Cell Name: endothelial cell of sinusoid (CL0002262)
Fold Change: 0.84
Marker Score: 203 - Cell Name: neural cell (CL0002319)
Fold Change: 0.82
Marker Score: 394 - Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.81
Marker Score: 857.5 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1252 - Cell Name: precursor B cell (CL0000817)
Fold Change: 0.77
Marker Score: 507 - Cell Name: brush cell (CL0002204)
Fold Change: 0.76
Marker Score: 692 - Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 391 - Cell Name: preosteoblast (CL0007010)
Fold Change: 0.75
Marker Score: 212 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.74
Marker Score: 562 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.73
Marker Score: 1385 - Cell Name: myeloid cell (CL0000763)
Fold Change: 0.72
Marker Score: 1153 - Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.72
Marker Score: 348 - Cell Name: lactocyte (CL0002325)
Fold Change: 0.7
Marker Score: 11239 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177 - Cell Name: ionocyte (CL0005006)
Fold Change: 0.66
Marker Score: 199 - Cell Name: pericyte (CL0000669)
Fold Change: 0.62
Marker Score: 361 - Cell Name: epithelial cell (CL0000066)
Fold Change: 0.61
Marker Score: 970 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.61
Marker Score: 389 - Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 0.6
Marker Score: 336 - Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.6
Marker Score: 189 - Cell Name: lung macrophage (CL1001603)
Fold Change: 0.59
Marker Score: 674 - Cell Name: Schwann cell (CL0002573)
Fold Change: 0.59
Marker Score: 203 - Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 0.58
Marker Score: 7778 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.58
Marker Score: 19772 - Cell Name: contractile cell (CL0000183)
Fold Change: 0.58
Marker Score: 312 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.57
Marker Score: 240 - Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.56
Marker Score: 337 - Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444 - Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 0.55
Marker Score: 521.5 - Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 0.55
Marker Score: 592 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 0.54
Marker Score: 652 - Cell Name: osteoclast (CL0000092)
Fold Change: 0.52
Marker Score: 258 - Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.51
Marker Score: 136 - Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.51
Marker Score: 1972 - Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.51
Marker Score: 182 - Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.51
Marker Score: 241 - Cell Name: retina horizontal cell (CL0000745)
Fold Change: 0.48
Marker Score: 462 - Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.46
Marker Score: 207 - Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.45
Marker Score: 145 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.45
Marker Score: 327 - Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 0.44
Marker Score: 417 - Cell Name: eurydendroid cell (CL0000253)
Fold Change: 0.44
Marker Score: 181 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.43
Marker Score: 135 - Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 0.42
Marker Score: 269 - Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.42
Marker Score: 184 - Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 0.41
Marker Score: 155 - Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 0.41
Marker Score: 135 - Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.38
Marker Score: 895 - Cell Name: fibroblast of lung (CL0002553)
Fold Change: 0.38
Marker Score: 992 - Cell Name: peritubular capillary endothelial cell (CL1001033)
Fold Change: 0.38
Marker Score: 88 - Cell Name: microglial cell (CL0000129)
Fold Change: 0.38
Marker Score: 683 - Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 0.37
Marker Score: 151 - Cell Name: endothelial cell (CL0000115)
Fold Change: 0.37
Marker Score: 330 - Cell Name: mature NK T cell (CL0000814)
Fold Change: 0.36
Marker Score: 168 - Cell Name: neural crest cell (CL0011012)
Fold Change: 0.36
Marker Score: 386 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.35
Marker Score: 103 - Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.35
Marker Score: 317 - Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.35
Marker Score: 322 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.35
Marker Score: 705 - Cell Name: fibroblast (CL0000057)
Fold Change: 0.35
Marker Score: 334
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Other Information
Genular Protein ID: 3413842782
Symbol: LIPL_HUMAN
Name: Lipoprotein lipase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3823907
Title: Human lipoprotein lipase complementary DNA sequence.
PubMed ID: 3823907
PubMed ID: 2701938
Title: Nucleotide sequence of human cDNA coding for a lipoprotein lipase (LPL) cloned from placental cDNA library.
PubMed ID: 2701938
PubMed ID: 2243796
Title: DNA sequence of lipoprotein lipase cDNA cloned from human monocytic leukemia THP-1 cells.
PubMed ID: 2243796
PubMed ID: 1537564
Title: The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence.
PubMed ID: 1537564
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
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: 1406652
Title: Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis.
PubMed ID: 1406652
PubMed ID: 2340307
Title: Rapid and simple isolation procedure for lipoprotein lipase from human milk.
PubMed ID: 2340307
PubMed ID: 7592706
Title: Human hepatic and lipoprotein lipase: the loop covering the catalytic site mediates lipase substrate specificity.
PubMed ID: 7592706
PubMed ID: 8675619
Title: Severe hypertriglyceridemia, reduced high density lipoprotein, and neonatal death in lipoprotein lipase knockout mice. Mild hypertriglyceridemia with impaired very low density lipoprotein clearance in heterozygotes.
PubMed ID: 8675619
DOI: 10.1172/jci118319
PubMed ID: 11342582
Title: Heparin-binding defective lipoprotein lipase is unstable and causes abnormalities in lipid delivery to tissues.
PubMed ID: 11342582
DOI: 10.1172/jci11774
PubMed ID: 12032167
Title: Characterization of the lipolytic activity of endothelial lipase.
PubMed ID: 12032167
PubMed ID: 16179346
Title: Calcium triggers folding of lipoprotein lipase into active dimers.
PubMed ID: 16179346
PubMed ID: 17997385
Title: Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution.
PubMed ID: 17997385
PubMed ID: 18780401
Title: Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry.
PubMed ID: 18780401
PubMed ID: 21385844
Title: SorLA regulates the activity of lipoprotein lipase by intracellular trafficking.
PubMed ID: 21385844
DOI: 10.1242/jcs.072538
PubMed ID: 25066055
Title: The ER-associated degradation adaptor protein Sel1L regulates LPL secretion and lipid metabolism.
PubMed ID: 25066055
PubMed ID: 24726386
Title: The GPIHBP1-LPL complex is responsible for the margination of triglyceride-rich lipoproteins in capillaries.
PubMed ID: 24726386
PubMed ID: 27929370
Title: The angiopoietin-like protein ANGPTL4 catalyzes unfolding of the hydrolase domain in lipoprotein lipase and the endothelial membrane protein GPIHBP1 counteracts this unfolding.
PubMed ID: 27929370
DOI: 10.7554/elife.20958
PubMed ID: 26725083
Title: The acidic domain of the endothelial membrane protein GPIHBP1 stabilizes lipoprotein lipase activity by preventing unfolding of its catalytic domain.
PubMed ID: 26725083
DOI: 10.7554/elife.12095
PubMed ID: 27811232
Title: Mobility of 'HSPG-bound' LPL explains how LPL is able to reach GPIHBP1 on capillaries.
PubMed ID: 27811232
DOI: 10.1194/jlr.m072520
PubMed ID: 29899144
Title: A disordered acidic domain in GPIHBP1 harboring a sulfated tyrosine regulates lipoprotein lipase.
PubMed ID: 29899144
PubMed ID: 8308035
Title: Lipoprotein lipase. Molecular model based on the pancreatic lipase X-ray structure: consequences for heparin binding and catalysis.
PubMed ID: 8308035
PubMed ID: 30559189
Title: Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.
PubMed ID: 30559189
PubMed ID: 2121025
Title: Compound heterozygote for lipoprotein lipase deficiency: Ser-->Thr244 and transition in 3' splice site of intron 2 (AG-->AA) in the lipoprotein lipase gene.
PubMed ID: 2121025
PubMed ID: 1969408
Title: Missense mutation (Gly-->Glu188) of human lipoprotein lipase imparting functional deficiency.
PubMed ID: 1969408
PubMed ID: 1975597
Title: A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
PubMed ID: 1975597
DOI: 10.1172/jci114769
PubMed ID: 2110364
Title: Lipoprotein lipase Bethesda: a single amino acid substitution (Ala-176-->Thr) leads to abnormal heparin binding and loss of enzymic activity.
PubMed ID: 2110364
PubMed ID: 1702428
Title: Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.
PubMed ID: 1702428
PubMed ID: 1907278
Title: Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family.
PubMed ID: 1907278
PubMed ID: 2010533
Title: Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
PubMed ID: 2010533
DOI: 10.1172/jci115114
PubMed ID: 1674945
Title: Amino acid substitution (Ile194-->Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
PubMed ID: 1674945
DOI: 10.1172/jci115229
PubMed ID: 1752947
Title: Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
PubMed ID: 1752947
DOI: 10.1172/jci115507
PubMed ID: 2038366
Title: A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.
PubMed ID: 2038366
PubMed ID: 1598907
Title: A missense mutation (Trp86-->Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.
PubMed ID: 1598907
PubMed ID: 1521525
Title: A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity.
PubMed ID: 1521525
PubMed ID: 1639392
Title: A missense mutation (Asp250-->Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
PubMed ID: 1639392
PubMed ID: 1730727
Title: Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis.
PubMed ID: 1730727
PubMed ID: 1371284
Title: Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241.
PubMed ID: 1371284
PubMed ID: 1400331
Title: Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.
PubMed ID: 1400331
PubMed ID: 1619366
Title: A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.
PubMed ID: 1619366
PubMed ID: 1479292
Title: Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.
PubMed ID: 1479292
PubMed ID: 8096693
Title: A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.
PubMed ID: 8096693
PubMed ID: 8288243
Title: A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
PubMed ID: 8288243
PubMed ID: 8486765
Title: Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene.
PubMed ID: 8486765
DOI: 10.1172/jci116414
PubMed ID: 8325986
Title: Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
PubMed ID: 8325986
DOI: 10.1172/jci116551
PubMed ID: 8301230
Title: Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase.
PubMed ID: 8301230
PubMed ID: 8135797
Title: A new Italian case of lipoprotein lipase deficiency: a Leu365-> Val change resulting in loss of enzyme activity.
PubMed ID: 8135797
PubMed ID: 7999071
Title: A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion.
PubMed ID: 7999071
PubMed ID: 7906986
Title: Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.
PubMed ID: 7906986
PubMed ID: 7912254
Title: A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression.
PubMed ID: 7912254
PubMed ID: 8077845
Title: High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform.
PubMed ID: 8077845
PubMed ID: 7806969
Title: A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.
PubMed ID: 7806969
PubMed ID: 7647785
Title: A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.
PubMed ID: 7647785
DOI: 10.1038/ng0595-28
PubMed ID: 8858123
Title: A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase.
PubMed ID: 8858123
PubMed ID: 8872057
Title: Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.
PubMed ID: 8872057
PubMed ID: 8956048
Title: Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.
PubMed ID: 8956048
DOI: 10.1002/(sici)1098-1004(1996)8:4<381::aid-humu16>3.0.co;2-z
PubMed ID: 8956052
Title: A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
PubMed ID: 8956052
PubMed ID: 8728326
Title: Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His).
PubMed ID: 8728326
PubMed ID: 8778602
Title: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.
PubMed ID: 8778602
PubMed ID: 8973094
Title: Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250-->Asn; Ser251-->Cys) resulting in lipoprotein lipase (LPL) deficiency.
PubMed ID: 8973094
PubMed ID: 9298816
Title: A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry.
PubMed ID: 9298816
DOI: 10.1002/(sici)1098-1004(1997)10:3<179::aid-humu1>3.0.co;2-e
PubMed ID: 9401010
Title: Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.
PubMed ID: 9401010
DOI: 10.1002/(sici)1098-1004(1997)10:6<465::aid-humu8>3.0.co;2-c
PubMed ID: 9279761
Title: Assessment of French patients with LPL deficiency for French Canadian mutations.
PubMed ID: 9279761
DOI: 10.1136/jmg.34.8.672
PubMed ID: 9714430
Title: Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.
PubMed ID: 9714430
DOI: 10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m
PubMed ID: 9498099
Title: A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis.
PubMed ID: 9498099
PubMed ID: 10660334
Title: Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LPL) as a cause of chylomicronemia.
PubMed ID: 10660334
PubMed ID: 9719626
Title: Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects.
PubMed ID: 9719626
PubMed ID: 9662394
Title: DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.
PubMed ID: 9662394
DOI: 10.1038/907
PubMed ID: 10391209
Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.
PubMed ID: 10391209
DOI: 10.1038/10290
PubMed ID: 11068186
Title: A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.
PubMed ID: 11068186
PubMed ID: 11099402
Title: A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.
PubMed ID: 11099402
DOI: 10.1042/cs0990569
PubMed ID: 11134145
Title: Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis.
PubMed ID: 11134145
PubMed ID: 10787434
Title: Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.
PubMed ID: 10787434
PubMed ID: 11441134
Title: Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
PubMed ID: 11441134
PubMed ID: 12204001
Title: Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.
PubMed ID: 12204001
DOI: 10.1002/humu.9054
PubMed ID: 11893776
Title: Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene.
PubMed ID: 11893776
PubMed ID: 12641539
Title: Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.
PubMed ID: 12641539
PubMed ID: 12966036
Title: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
PubMed ID: 12966036
DOI: 10.1093/hmg/ddg314
PubMed ID: 14984478
Title: Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.
PubMed ID: 14984478
PubMed ID: 15185149
Title: Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study.
PubMed ID: 15185149
PubMed ID: 15256764
Title: Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996.
PubMed ID: 15256764
DOI: 10.5551/jat.11.131
PubMed ID: 15877202
Title: Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
PubMed ID: 15877202
PubMed ID: 24291057
Title: Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.
PubMed ID: 24291057
PubMed ID: 27578112
Title: Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
PubMed ID: 27578112
Sequence Information:
- Length: 475
- Mass: 53162
- Checksum: FBD00FCD334FB8AA
- Sequence:
MESKALLVLT LAVWLQSLTA SRGGVAAADQ RRDFIDIESK FALRTPEDTA EDTCHLIPGV AESVATCHFN HSSKTFMVIH GWTVTGMYES WVPKLVAALY KREPDSNVIV VDWLSRAQEH YPVSAGYTKL VGQDVARFIN WMEEEFNYPL DNVHLLGYSL GAHAAGIAGS LTNKKVNRIT GLDPAGPNFE YAEAPSRLSP DDADFVDVLH TFTRGSPGRS IGIQKPVGHV DIYPNGGTFQ PGCNIGEAIR VIAERGLGDV DQLVKCSHER SIHLFIDSLL NEENPSKAYR CSSKEAFEKG LCLSCRKNRC NNLGYEINKV RAKRSSKMYL KTRSQMPYKV FHYQVKIHFS GTESETHTNQ AFEISLYGTV AESENIPFTL PEVSTNKTYS FLIYTEVDIG ELLMLKLKWK SDSYFSWSDW WSSPGFAIQK IRVKAGETQK KVIFCSREKV SHLQKGKAPA VFVKCHDKSL NKKSG
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.