Entity Details

Primary name LCAT
Entity type gene
Source Source Link

Details

PrimaryID3931
RefseqGeneNG_009778
SymbolLCAT
Namelecithin-cholesterol acyltransferase
Chromosome16
Location16q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsLCAT_HUMAN

GO terms

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GOName
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity
GO:0004607 phosphatidylcholine-sterol O-acyltransferase activity
GO:0004806 triglyceride lipase activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0006629 lipid metabolic process
GO:0006644 phospholipid metabolic process
GO:0006656 phosphatidylcholine biosynthetic process
GO:0008203 cholesterol metabolic process
GO:0030301 cholesterol transport
GO:0034186 apolipoprotein A-I binding
GO:0034364 high-density lipoprotein particle
GO:0034372 very-low-density lipoprotein particle remodeling
GO:0034375 high-density lipoprotein particle remodeling
GO:0034435 cholesterol esterification
GO:0042158 lipoprotein biosynthetic process
GO:0042632 cholesterol homeostasis
GO:0043691 reverse cholesterol transport
GO:0046470 phosphatidylcholine metabolic process
GO:0047179 platelet-activating factor acetyltransferase activity
GO:0070062 extracellular exosome
GO:0090107 regulation of high-density lipoprotein particle assembly

Diseases

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Disease IDSourceNameDescription
245900 OMIMLecithin-cholesterol acyltransferase deficiency (LCATD)A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. The disease is caused by variants affecting the gene represented in this entry.
136120 OMIMFish-eye disease (FED)A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye'). The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions