present in Gene: LCAT
present in Chromosome: 16
Position on Chromosome: 67942754
Alleles of this Variant: G/A
rs121908050 in
LCAT gene and
Fish-Eye Disease
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 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 15994445 2005 The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
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 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 8620346 1996 Two novel molecular defects in the LCAT gene are associated with fish eye disease.