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Background
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The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Alias Symbols: HL
Protein Interaction Partner: GTF2B, PEX5, ADAMTS10, RNF126, ARL6IP1, DNAJA1, HES1, MS4A7,
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