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. [provided by RefSeq, Oct 2009]

Description

3-hydroxymethyl-3-methylglutaryl-CoA lyase

Protein family

Disease related genes, Enzymes, Mapped to UniProt SWISS-PROT, Mitochondrial proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

1:p36.11 (23801885 - 23838620)

Ensembl ID

ENSG00000117305  (ver. 84.38)

Orthologs

Mouse Hmgcl: ENSMUSG00000028672

UniProt

P35914

neXtProt

NX_P35914

Human splice variants
Mouse splice variants