4asi
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Crystal structure of human ACACA C-terminal domain
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Structural highlights
DiseaseACACA_HUMAN Defects in ACACA are a cause of acetyl-CoA carboxylase 1 deficiency (ACACAD) [MIM:613933; also known as ACAC deficiency or ACC deficiency. An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.[1] FunctionACACA_HUMAN Catalyzes the rate-limiting reaction in the biogenesis of long-chain fatty acids. Carries out three functions: biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase.[2] See AlsoReferences
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This page was last modified 11:34, 20 December 2023.