NCBI Description of HMGCL
|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.|
Community Annotation of HMGCL Add / Edit HMGCL: Annotations
No community annotations yet for HMGCL.
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