Overview

ACAT


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An evolutionarily conserved enzyme (acyl-coenzyme A:cholesterol acyltransferase, sterol O-acyltransferase) that catalyses cholesterol ester formation from cholesterol and fatty acyl-CoA substrates. The ACAT1 gene encodes mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9, 427 aa), deficiency in which causes 3-*ketothiolase deficiency. The ACAT2 gene encodes cytosolic acetoacetyl-CoA thiolase (550 aa); mutation causes severe mental retardation and hypotonus.

Subjects: Medicine and Health.


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