HMGCL - 3-hydroxy-3-methylglutaryl-CoA lyase
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. [provided by RefSeq, Oct 2009]
NCBI Orthologs
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Protein alignment
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Species | Gene | Architecture | aa |
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