Gene: LCAT

Alternate names for this Gene: -

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: lecithin-cholesterol acyltransferase

Type of Gene: protein-coding

Gene: SLC12A4

Alternate names for this Gene: CTC-479C5.17|KCC1|hKCC1

Gene Summary: This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: solute carrier family 12 member 4

Type of Gene: protein-coding

rs1109166 in LCAT;SLC12A4 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs121908051 in LCAT;SLC12A4 gene and Fish-Eye Disease PMID 9261271 1997 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.

PMID 1516702 1992 The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

PMID 21901787 2011 High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.

PMID 1571050 1992 An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease.

PMID 8620346 1996 Two novel molecular defects in the LCAT gene are associated with fish eye disease.

PMID 1737840 1992 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).

PMID 15994445 2005 The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.

rs1109166 in LCAT;SLC12A4 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs1109166 in LCAT;SLC12A4 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.