Proteins > Hydroxymethylglutaryl-CoA lyase (HMGCL)
Hydroxymethylglutaryl-CoA lyase (HMGCL)
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UniProt Number:
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P35914
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Alternate Names:
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HMG-CoA lyase, HL, 3-hydroxy-3-methylglutarate-CoA lyase
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Structure and Function:
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HMGCL is a mitochondrial enzyme that is involved in the catabolism of branched amino acids such as leucine. HMGCL is also involved in the production of ketones during the breakdown of fats by converting β-hydroxy-β-methylglutaryl-CoA to acetyl-CoA and acetoacetate.
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Disease Associations:
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Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] (also known as hydroxymethylglutaricaciduria or HL deficiency), an autosomal recessive disease affecting ketogenesis and L-leucine catabolism.
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Monoclonal Antibodies
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