HMGCL, 3-hydroxy-3-methylglutaryl-CoA lyase

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]

• Gene Synonyms (hydroxymethylglutaryl-CoA lyase, mitochondrial, 3-hydroxy-3-methylglutarate-CoA lyase, 3-hydroxymethyl-3-methylglutaryl-CoA lyase, 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase, HMG-CoA lyase, hydroxymethylglutaricaciduria, mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase, HL,)
• NCBI Gene ID: 3155
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P35914
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

3-hydroxy-3-methylglutaryl-CoA lyase interacts with:

• 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1
  ADAM metallopeptidase with thrombospondin type 1 motif 10
  ADP ribosylation factor like GTPase 6 interacting protein 1
  aldehyde dehydrogenase 4 family member A1
  cytochrome c oxidase copper chaperone COX17
  DnaJ heat shock protein family (Hsp40) member A1
  F-box protein 21
  hes family bHLH transcription factor 1
  inhibin subunit beta A
  LSM12 homolog
  lysophospholipase like 1
  membrane spanning 4-domains A7
  methionine sulfoxide reductase B2
  methylcrotonoyl-CoA carboxylase 2
  mitochondrial genome maintenance exonuclease 1
  N-terminal glutamine amidase 1
  peroxisomal biogenesis factor 5
  pirin
  pleckstrin homology domain containing A4
  polyribonucleotide nucleotidyltransferase 1
  RAB11A, member RAS oncogene family
  RAB1A, member RAS oncogene family
  RAB7A, member RAS oncogene family
  ring finger protein 126
  thioredoxin domain containing 12
  translocase of outer mitochondrial membrane 40

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.