Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Lecithin-cholesterol acyltransferase

The LCAT gene encodes the enzyme LCAT, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport back to the liver. Loss-of function mutations have been found to cause fish-eye and Norum disease.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Norum disease
LCAT
Fish-eye disease
LCAT
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

1.

Jonas A et al. (2000) Lecithin cholesterol acyltransferase.

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2.

Kinoshita M et al. (2001) [LCAT (lecithin:cholesterol acyltransferase)].

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3.

Skretting G et al. (1992) The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.

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4.

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

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5.

Bujo H et al. (1991) Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease.

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6.

Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.

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7.

Královicová J et al. (2006) Phenotypic consequences of branch point substitutions.

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8.

Klein HG et al. (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).

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9.

Maeda E et al. (1991) Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene.

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10.

Funke H et al. (1991) A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

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11.

Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

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12.

Scherer G et al. (1989) Gene mapping on mouse chromosome 8 by interspecific crosses: new data on a linkage group conserved on human chromosome 16q.

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13.

Humphries SE et al. (1988) A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency.

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14.

McLean J et al. (1986) Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.

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15.

Azoulay M et al. (1987) The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.

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16.

McLean J et al. (1986) Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.

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17.

Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.

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18.

Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.

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19.

Vergani C et al. (1983) A new case of familial LCAT deficiency.

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20.

Frohlich J et al. (1982) Lecithin: cholesterol acyl transferase (LCAT).

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21.

Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

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22.

Klein HG et al. (1993) Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.

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23.

Funke H et al. (1993) 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.

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24.

Kuivenhoven JA et al. (1995) A unique genetic and biochemical presentation of fish-eye disease.

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25.

Kuivenhoven JA et al. (1996) An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

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Update: Sept. 26, 2018