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Hum Genet. 1990 Jul;85(2):195-9.

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele.

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1
Dipartimento di Genetica e di Biologia dei Microrganismi, Milan, Italy.

Abstract

The enzyme, lecithin cholesterol acyltransferase (LCAT), is responsible for the esterification of plasma cholesterol mediating the transfer of an acyl group from lecithin to the 3-hydroxy group of cholesterol. Deficiency of the enzyme is a well-known syndrome with a widespread geographic occurrence. We have cloned an allele from a patient homozygous for the LCAT deficiency. The only change that we could detect is a C to T transition in the fourth exon of the gene; this causes a substitution of Arg for Trp at position 147 of the mature protein. The functional significance of such a substitution with respect to the enzyme defect was demonstrated by transfecting the mutated LCAT gene in the cell line COS-1.

PMID:
2370048
[Indexed for MEDLINE]
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