Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Lecithin cholesterol acyltransferase deficiency

OMIM:245900
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolLCAT
Reference transcriptNM_000229.1
DNA Changec.1010G>A
A.A. Changep.Cys337Tyr
Exon/Intronexon 6
Mutation Typesubstitution
ReferenceHolleboom 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.