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:
Related Diseases:
References:
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Frohlich J et al. (1982) Lecithin: cholesterol acyl transferase (LCAT).
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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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Kuivenhoven JA et al. (1995) A unique genetic and biochemical presentation of fish-eye disease.
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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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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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McLean J et al. (1986) Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression.
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Azoulay M et al. (1987) The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22.
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McLean J et al. (1986) Cloning and expression of human lecithin-cholesterol acyltransferase cDNA.
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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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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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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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Královicová J et al. (2006) Phenotypic consequences of branch point substitutions.
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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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14. |
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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Skretting G et al. (1992) The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.
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Kinoshita M et al. (2001) [LCAT (lecithin:cholesterol acyltransferase)].
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None (2000) Lecithin cholesterol acyltransferase.
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Teisberg P et al. (1975) Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.
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Vergani C et al. (1983) A new case of familial LCAT deficiency.
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Norum KR et al. (1967) Familial serum-cholesterol esterification failure. A new inborn error of metabolism.
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Norum KR et al. (1974) Lecithin: cholesterol acyltransferase recent research on biochemistry and physiology of the enzyme.
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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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Taramelli R et al. (1990) Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.
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24. |
Gotoda T et al. (1991) Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency.
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25. |
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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NCBI article
NCBI 3931
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OMIM.ORG article
Omim 606967
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Orphanet article
Orphanet ID 123006
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Wikipedia article
Wikipedia EN (Lecithin–cholesterol_acyltransferase)
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Update: Aug. 14, 2020