LCAT Blocking Peptide

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]

LCAT: Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines. Also produced in the brain by primary astrocytes, and esterifies free cholesterol on nascent APOE-containing lipoproteins secreted from glia and influences cerebral spinal fluid (CSF) APOE- and APOA1 levels. Together with APOE and the cholesterol transporter ABCA1, plays a key role in the maturation of glial-derived, nascent lipoproteins. Required for remodeling high-density lipoprotein particles into their spherical forms. Defects in LCAT are the cause of lecithin-cholesterol acyltransferase deficiency (LCATD); also called Norum disease. LCATD is a disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: familial LCAT deficiency and fish-eye disease. Familial LCAT deficiency is associated with a complete absence of alpha and beta LCAT activities and results 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. Defects in LCAT are a cause of fish-eye disease (FED); also known as dyslipoproteinemic corneal dystrophy or alpha-LCAT deficiency. FED is due to a partial LCAT deficiency that affects only alpha-LCAT activity. It is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye'). Belongs to the AB hydrolase superfamily. Lipase family.

Protein type: Secreted, signal peptide; Secreted; Lipid Metabolism - glycerophospholipid; EC 2.3.1.43; Transferase

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: extracellular space; extracellular region

Molecular Function: apolipoprotein A-I binding; protein binding; phosphatidylcholine-sterol O-acyltransferase activity

Biological Process: cholesterol metabolic process; cholesterol homeostasis; reverse cholesterol transport; cholesterol transport; lipoprotein biosynthetic process; phospholipid metabolic process; phosphatidylcholine biosynthetic process; lipoprotein metabolic process

Disease: Lecithin:cholesterol Acyltransferase Deficiency; Fish-eye Disease