Details for: LCAT

Gene ID: 3931

Symbol: LCAT

Ensembl ID: ENSG00000213398

Description: lecithin-cholesterol acyltransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 52.0749
    Cell Significance Index: -8.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 33.6693
    Cell Significance Index: -8.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 17.0507
    Cell Significance Index: -8.0500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.9102
    Cell Significance Index: -8.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.4944
    Cell Significance Index: 152.9300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.1769
    Cell Significance Index: -8.5900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.6730
    Cell Significance Index: 11.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6380
    Cell Significance Index: 17.8300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6192
    Cell Significance Index: 122.8800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.5526
    Cell Significance Index: 7.5400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5368
    Cell Significance Index: 102.1700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5302
    Cell Significance Index: 52.4500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5161
    Cell Significance Index: 16.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4345
    Cell Significance Index: 392.2900
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.3091
    Cell Significance Index: 3.5600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2099
    Cell Significance Index: 16.1100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1786
    Cell Significance Index: 5.1200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1508
    Cell Significance Index: 2.5400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1487
    Cell Significance Index: 2.3900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1409
    Cell Significance Index: 2.7500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.1363
    Cell Significance Index: 1.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1319
    Cell Significance Index: 3.5900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1276
    Cell Significance Index: 20.7500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1272
    Cell Significance Index: 13.8400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0844
    Cell Significance Index: 9.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0805
    Cell Significance Index: 4.1800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0713
    Cell Significance Index: 3.6000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0698
    Cell Significance Index: 2.0100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0681
    Cell Significance Index: 8.7300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0676
    Cell Significance Index: 9.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0532
    Cell Significance Index: 0.8900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0521
    Cell Significance Index: 9.4000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0518
    Cell Significance Index: 22.9200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0476
    Cell Significance Index: 0.7000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0411
    Cell Significance Index: 2.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0310
    Cell Significance Index: 2.1900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0300
    Cell Significance Index: 0.8000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.0258
    Cell Significance Index: 0.3700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0149
    Cell Significance Index: 8.1600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0079
    Cell Significance Index: 0.9700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0056
    Cell Significance Index: 10.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0054
    Cell Significance Index: 0.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0047
    Cell Significance Index: 7.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0020
    Cell Significance Index: 3.6600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0021
    Cell Significance Index: -0.0300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0030
    Cell Significance Index: -1.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0034
    Cell Significance Index: -4.6300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0052
    Cell Significance Index: -2.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0083
    Cell Significance Index: -6.2500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0084
    Cell Significance Index: -0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0086
    Cell Significance Index: -6.2800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0094
    Cell Significance Index: -1.3700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0123
    Cell Significance Index: -9.1400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0136
    Cell Significance Index: -8.4800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0148
    Cell Significance Index: -0.3200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0157
    Cell Significance Index: -5.6200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0158
    Cell Significance Index: -8.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0172
    Cell Significance Index: -0.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0190
    Cell Significance Index: -3.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0220
    Cell Significance Index: -6.3300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0221
    Cell Significance Index: -1.0300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0268
    Cell Significance Index: -3.0700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0271
    Cell Significance Index: -2.7700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.0300
    Cell Significance Index: -0.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0328
    Cell Significance Index: -6.5900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0335
    Cell Significance Index: -0.8600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0423
    Cell Significance Index: -0.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0432
    Cell Significance Index: -5.0900
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.0436
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0437
    Cell Significance Index: -9.2000
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0504
    Cell Significance Index: -0.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0516
    Cell Significance Index: -6.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0582
    Cell Significance Index: -1.5600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0690
    Cell Significance Index: -7.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0717
    Cell Significance Index: -3.3700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0825
    Cell Significance Index: -5.3300
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0832
    Cell Significance Index: -1.4000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0843
    Cell Significance Index: -6.2800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0929
    Cell Significance Index: -7.3600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0942
    Cell Significance Index: -1.3900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1064
    Cell Significance Index: -1.8400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1151
    Cell Significance Index: -6.4600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1181
    Cell Significance Index: -7.2600
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -0.1207
    Cell Significance Index: -1.2500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1209
    Cell Significance Index: -8.1300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1215
    Cell Significance Index: -2.5200
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.1332
    Cell Significance Index: -1.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1334
    Cell Significance Index: -2.8400
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1570
    Cell Significance Index: -2.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1629
    Cell Significance Index: -3.4100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.1667
    Cell Significance Index: -1.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1695
    Cell Significance Index: -8.9000
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: -0.1702
    Cell Significance Index: -0.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1717
    Cell Significance Index: -5.9700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2018
    Cell Significance Index: -2.9300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2069
    Cell Significance Index: -9.1500
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.2123
    Cell Significance Index: -2.9800
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.2184
    Cell Significance Index: -2.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2206
    Cell Significance Index: -5.8000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2301
    Cell Significance Index: -3.2700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Structure and Function:** LCAT is a glycosylphosphatidylinositol (GPI)-anchored enzyme that consists of two subunits: a catalytic subunit and a regulatory subunit. The catalytic subunit is responsible for the acyltransferase activity, while the regulatory subunit modulates the enzyme's activity. 2. **Subcellular Localization:** LCAT is primarily found in the plasma membrane of various cells, including hepatocytes, macrophages, and endothelial cells. 3. **Regulation:** LCAT activity is regulated by various factors, including cholesterol levels, HDL levels, and protein kinase C (PKC) signaling pathways. **Pathways and Functions:** 1. **Reverse Cholesterol Transport:** LCAT catalyzes the conversion of unesterified cholesterol into cholesteryl esters, which are then transported to peripheral tissues via HDL. This process is essential for removing excess cholesterol from peripheral tissues and preventing its accumulation in the walls of arteries. 2. **HDL Remodeling:** LCAT is involved in the remodeling of HDL particles, which is crucial for maintaining their function and stability. HDL remodeling involves the exchange of cholesterol esters and triglycerides between HDL particles, which regulates HDL function and prevents its premature oxidation. 3. **Cholesterol Metabolic Process:** LCAT is also involved in the metabolic process of cholesterol, which involves the conversion of unesterified cholesterol into cholesteryl esters and the subsequent transport of these esters to peripheral tissues. 4. **Platelet-Activating Factor (PAF) Acetyltransferase Activity:** LCAT has been shown to have PAF acetyltransferase activity, which is involved in the regulation of platelet activation and aggregation. **Clinical Significance:** 1. **Atherosclerosis Prevention:** LCAT plays a crucial role in preventing atherosclerosis by facilitating the removal of excess cholesterol from peripheral tissues via reverse cholesterol transport. 2. **Hyperlipidemia Treatment:** LCAT inhibitors have been shown to be effective in treating hyperlipidemia by reducing HDL levels and increasing the risk of cardiovascular disease. 3. **Cancer Prevention:** LCAT has been implicated in the development and progression of certain cancers, including colon cancer. Its role in cancer prevention is being further investigated. 4. **Neurodegenerative Diseases:** LCAT has been shown to be involved in the pathogenesis of neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. Its role in these diseases is being further investigated. In conclusion, LCAT plays a critical role in maintaining cholesterol homeostasis by facilitating the conversion of unesterified cholesterol into cholesteryl esters and the subsequent transport of these esters to peripheral tissues via HDL. Its dysregulation has been implicated in various diseases, including atherosclerosis, hyperlipidemia, and cancer. Further research is needed to fully understand the mechanisms by which LCAT regulates cholesterol homeostasis and to develop effective therapeutic strategies for the prevention and treatment of these diseases.

Genular Protein ID: 2525910493

Symbol: LCAT_HUMAN

Name: Phosphatidylcholine-sterol acyltransferase

UniProtKB Accession Codes:

P04180 Q53XQ3

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 67 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 10 ESTHER 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 31 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3797244

Title: Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.

PubMed ID: 3797244

DOI: 10.1093/nar/14.23.9397

PubMed ID: 3458198

Title: Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.

PubMed ID: 3458198

DOI: 10.1073/pnas.83.8.2335

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 2823898

Title: The isolation and characterisation of cDNA and genomic clones for human lecithin: cholesterol acyltransferase.

PubMed ID: 2823898

DOI: 10.1016/0167-4781(87)90066-2

PubMed ID: 2823801

Title: The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease.

PubMed ID: 2823801

DOI: 10.1016/0006-291x(87)91090-4

PubMed ID: 2880847

Title: Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme.

PubMed ID: 2880847

DOI: 10.1016/s0021-9258(18)61472-3

PubMed ID: 8016111

Title: Hydrolysis and transesterification of platelet-activating factor by lecithin-cholesterol acyltransferase.

PubMed ID: 8016111

DOI: 10.1073/pnas.91.13.6035

PubMed ID: 7613477

Title: Site-specific detection and structural characterization of the glycosylation of human plasma proteins lecithin:cholesterol acyltransferase and apolipoprotein D using HPLC/electrospray mass spectrometry and sequential glycosidase digestion.

PubMed ID: 7613477

DOI: 10.1002/pro.5560040419

PubMed ID: 8820107

Title: Comparative studies on the substrate specificity of lecithin:cholesterol acyltransferase towards the molecular species of phosphatidylcholine in the plasma of 14 vertebrates.

PubMed ID: 8820107

PubMed ID: 10222237

Title: Secretion of lecithin:cholesterol acyltransferase by brain neuroglial cell lines.

PubMed ID: 10222237

DOI: 10.1006/bbrc.1999.0601

PubMed ID: 10329423

Title: Binding affinity and reactivity of lecithin cholesterol acyltransferase with native lipoproteins.

PubMed ID: 10329423

DOI: 10.1006/bbrc.1999.0690

PubMed ID: 10722751

Title: Formation of spherical, reconstituted high density lipoproteins containing both apolipoproteins A-I and A-II is mediated by lecithin:cholesterol acyltransferase.

PubMed ID: 10722751

DOI: 10.1074/jbc.275.12.9019

PubMed ID: 12354767

Title: Serum lysophosphatidic acid is produced through diverse phospholipase pathways.

PubMed ID: 12354767

DOI: 10.1074/jbc.m206812200

PubMed ID: 14636062

Title: Negative charge at amino acid 149 is the molecular determinant for substrate specificity of lecithin: cholesterol acyltransferase for phosphatidylcholine containing 20-carbon sn-2 fatty acyl chains.

PubMed ID: 14636062

DOI: 10.1021/bi035460u

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: 17950106

Title: Relationship of endogenous hyperleptinemia to serum paraoxonase 1, cholesteryl ester transfer protein, and lecithin cholesterol acyltransferase in obese individuals.

PubMed ID: 17950106

DOI: 10.1016/j.metabol.2007.06.022

PubMed ID: 19065001

Title: LCAT synthesized by primary astrocytes esterifies cholesterol on glia-derived lipoproteins.

PubMed ID: 19065001

DOI: 10.1194/jlr.m800584-jlr200

PubMed ID: 24620755

Title: The enzyme lecithin-cholesterol acyltransferase esterifies cerebrosterol and limits the toxic effect of this oxysterol on SH-SY5Y cells.

PubMed ID: 24620755

DOI: 10.1111/jnc.12713

PubMed ID: 26195816

Title: The high resolution crystal structure of human LCAT.

PubMed ID: 26195816

DOI: 10.1194/jlr.m059873

PubMed ID: 25727495

Title: Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.

PubMed ID: 25727495

DOI: 10.1038/ncomms7250

PubMed ID: 1571050

Title: An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

PubMed ID: 1571050

DOI: 10.1016/0006-291x(92)91772-i

PubMed ID: 1737840

Title: Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123-->Ile) and lecithin-cholesterol acyltransferase (Thr347-->Met).

PubMed ID: 1737840

DOI: 10.1172/jci115612

PubMed ID: 2370048

Title: Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

PubMed ID: 2370048

DOI: 10.1007/bf00193195

PubMed ID: 1681161

Title: Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

PubMed ID: 1681161

DOI: 10.1016/0140-6736(91)90665-c

PubMed ID: 1516702

Title: The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

PubMed ID: 1516702

DOI: 10.1016/0014-5793(92)80795-i

PubMed ID: 1859405

Title: Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.

PubMed ID: 1859405

DOI: 10.1016/0006-291x(91)90129-u

PubMed ID: 8432868

Title: Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

PubMed ID: 8432868

DOI: 10.1172/jci116248

PubMed ID: 8318557

Title: Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.

PubMed ID: 8318557

DOI: 10.1016/0925-4439(93)90039-4

PubMed ID: 7607641

Title: A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency.

PubMed ID: 7607641

DOI: 10.1007/bf00214196

PubMed ID: 7711728

Title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene.

PubMed ID: 7711728

DOI: 10.1093/hmg/4.1.143

PubMed ID: 8620346

Title: Two novel molecular defects in the LCAT gene are associated with fish eye disease.

PubMed ID: 8620346

DOI: 10.1161/01.atv.16.2.294

PubMed ID: 8807342

Title: Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.

PubMed ID: 8807342

DOI: 10.1002/(sici)1098-1004(1996)8:1<79::aid-humu13>3.0.co;2-o

PubMed ID: 9007616

Title: A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency.

PubMed ID: 9007616

DOI: 10.1007/bf02602958

PubMed ID: 9261271

Title: Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea.

PubMed ID: 9261271

DOI: 10.1161/01.atv.17.7.1382

PubMed ID: 9741700

Title: Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.

PubMed ID: 9741700

PubMed ID: 11423760

Title: Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations.

PubMed ID: 11423760

DOI: 10.1159/000046001

PubMed ID: 12957688

Title: A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.

PubMed ID: 12957688

DOI: 10.1016/s0021-9150(03)00241-7

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: 15994445

Title: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.

PubMed ID: 15994445

DOI: 10.1161/01.atv.0000175751.30616.13

PubMed ID: 16051254

Title: Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family.

PubMed ID: 16051254

DOI: 10.1016/j.atherosclerosis.2005.06.022

PubMed ID: 16216249

Title: Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

PubMed ID: 16216249

DOI: 10.1016/j.atherosclerosis.2005.08.038

PubMed ID: 16874701

Title: LCAT deficiency: molecular and phenotypic characterization of an Italian family.

PubMed ID: 16874701

PubMed ID: 21901787

Title: High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.

PubMed ID: 21901787

DOI: 10.1002/humu.21578

Sequence Information:

  • Length: 440
  • Mass: 49578
  • Checksum: B315EF118AA7A378
  • Sequence:
    • MGPPGSPWQW VTLLLGLLLP PAAPFWLLNV LFPPHTTPKA ELSNHTRPVI LVPGCLGNQL 
EAKLDKPDVV NWMCYRKTED FFTIWLDLNM FLPLGVDCWI DNTRVVYNRS SGLVSNAPGV 
QIRVPGFGKT YSVEYLDSSK LAGYLHTLVQ NLVNNGYVRD ETVRAAPYDW RLEPGQQEEY 
YRKLAGLVEE MHAAYGKPVF LIGHSLGCLH LLYFLLRQPQ AWKDRFIDGF ISLGAPWGGS 
IKPMLVLASG DNQGIPIMSS IKLKEEQRIT TTSPWMFPSR MAWPEDHVFI STPSFNYTGR 
DFQRFFADLH FEEGWYMWLQ SRDLLAGLPA PGVEVYCLYG VGLPTPRTYI YDHGFPYTDP 
VGVLYEDGDD TVATRSTELC GLWQGRQPQP VHLLPLHGIQ HLNMVFSNLT LEHINAILLG 
AYRQGPPASP TASPEPPPPE

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.