LCAT

Gene name: lecithin-cholesterol acyltransferase
OMIM ID: 606967
Chromosome location: 16q22.1

Mutations

Disease/Phenotype	Lecithin cholesterol acyltransferase deficiency
Reference transcript	NM_000229.1
DNA Change	c.1010G>A
A.A. Change	p.Cys337Tyr
Exon/Intron	exon 6
Mutation Type	substitution
Reference	Holleboom AG, Kuivenhoven JA, van Olden CC, Peter J, Schimmel AW, Levels JH, Valentijn RM, Vos P, Defesche JC, Kastelein JJ, Hovingh GK, Stroes ES, Hollak CE.Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. Atherosclerosis. 2011 May;216(1):161-5.

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