HMG-CoA synthase, cytoplasmic is a protein that in humans is encoded by the HMGCS1 gene. This hydroxymethylglutaryl-CoA synthase enzyme is located in the cytoplasm and is involved in one of the early steps of cholesterol synthesis. This differs from HMG-CoA synthase, mitochondrial (encoded by HMGCS2) which is part of ketogenesis.
Function This enzyme catalyzes the following chemical reaction: acetoacetyl-CoA + acetyl-CoA + H2O → HMG-CoA + CoA + H+
Which is the second step in the mevalonate pathway which is required for cholesterol production. In the next step, the produced HMG-CoA gets acted on by the enzyme HMG-CoA reductase which is notably the target of statins.
Medical significance Pathogenic mutations in HMGCS1 are associated with a type of muscle disorder called congenital myopathy 28 with rigid spine (CMY028).
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