Details for: LCAT

Gene ID: 3931

Symbol: LCAT

Ensembl ID: ENSG00000213398

Description: lecithin-cholesterol acyltransferase

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: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1158
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.12
    Marker Score: 4335
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 1.07
    Marker Score: 417
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71813
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • 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: 498
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.96
    Marker Score: 3155
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 451
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.95
    Marker Score: 4100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5205
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 364
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 317
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.82
    Marker Score: 4382
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1252
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.76
    Marker Score: 350
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 386
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2868
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.67
    Marker Score: 4320
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 413
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.62
    Marker Score: 474.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9690
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.6
    Marker Score: 519.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.53
    Marker Score: 168
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.52
    Marker Score: 340
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.48
    Marker Score: 329
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.48
    Marker Score: 544
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.46
    Marker Score: 493
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.45
    Marker Score: 9602
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.45
    Marker Score: 262
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.44
    Marker Score: 2650
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.4
    Marker Score: 503
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.4
    Marker Score: 772
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4
    Marker Score: 6386
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.39
    Marker Score: 465
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.38
    Marker Score: 358
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.37
    Marker Score: 151
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.37
    Marker Score: 139
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.36
    Marker Score: 415
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.35
    Marker Score: 167
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.35
    Marker Score: 145
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.34
    Marker Score: 125
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.34
    Marker Score: 211
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.33
    Marker Score: 147
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.33
    Marker Score: 271
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.32
    Marker Score: 172
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.32
    Marker Score: 10750
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.32
    Marker Score: 132
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.31
    Marker Score: 115
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.3
    Marker Score: 112
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.29
    Marker Score: 91
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.29
    Marker Score: 161
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.29
    Marker Score: 73
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.27
    Marker Score: 71
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.27
    Marker Score: 245
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.27
    Marker Score: 117
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.27
    Marker Score: 258
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.26
    Marker Score: 198
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.26
    Marker Score: 536
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.26
    Marker Score: 68
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.26
    Marker Score: 1260
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.25
    Marker Score: 169
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.25
    Marker Score: 219
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.24
    Marker Score: 253
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.24
    Marker Score: 262
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.24
    Marker Score: 952
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.24
    Marker Score: 117
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.24
    Marker Score: 616
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.23
    Marker Score: 440
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.23
    Marker Score: 102
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.22
    Marker Score: 61
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.22
    Marker Score: 285
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.22
    Marker Score: 62
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.22
    Marker Score: 309
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.22
    Marker Score: 155
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.22
    Marker Score: 139
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.21
    Marker Score: 128
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.21
    Marker Score: 206
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.21
    Marker Score: 124
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.21
    Marker Score: 210
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.21
    Marker Score: 167
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.21
    Marker Score: 125
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.21
    Marker Score: 211
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.21
    Marker Score: 4618
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.2
    Marker Score: 186
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2
    Marker Score: 382
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.2
    Marker Score: 707
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.2
    Marker Score: 69
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.2
    Marker Score: 56
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.19
    Marker Score: 186
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.19
    Marker Score: 204
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.19
    Marker Score: 70

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Other Information

**Key characteristics:** * LCAT is a multi-functional enzyme that can act as a choline esterase, an apolipoprotein a-i binding protein, a cholesterol metabolic enzyme, a protein binding protein, and a sterol esterase. * It is highly expressed in the liver and other tissues that are involved in cholesterol metabolism. * It is also expressed in cells that are involved in the regulation of inflammation and cell growth. **Pathways and functions:** * LCAT is involved in the metabolism of choline and cholesterol. * It is involved in the synthesis of very-low-density lipoprotein (VLDL) particles, which are responsible for carrying cholesterol from the liver to peripheral tissues. * It is also involved in the remodeling and clearance of plasma lipoproteins. * It plays a role in the regulation of inflammation and cell growth. **Clinical significance:** * Mutations in the LCAT gene have been linked to a number of human diseases, including atherosclerosis, hypertension, and diabetes. * These diseases are characterized by the buildup of cholesterol and other substances in the blood, which can damage blood vessels and tissues. * LCAT inhibitors are being investigated as a treatment for 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 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 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 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 12 PDBsum 6 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 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. For the full schema, download it here.