XB-FEAT-1002068

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hmgcl

This is the community wiki page for the gene hmgcl please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

06.05.2018

The human name has changed for Entrez Gene: 3155. From 3-hydroxymethyl-3-methylglutaryl-CoA lyase to 3-hydroxy-3-methylglutaryl-CoA lyase.

Summary from NCBI

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]