We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822 [kidney development] GO:0001889 [liver development] GO:0003824 [catalytic activity] GO:0004421 [hydroxymethylglutaryl-CoA synthase activity] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0005759 [mitochondrial matrix] GO:0006695 [cholesterol biosynthetic process] GO:0007420 [brain development] GO:0007494 [midgut development] GO:0007584 [response to nutrient] GO:0008152 [metabolic process] GO:0008299 [isoprenoid biosynthetic process] GO:0009266 [response to temperature stimulus] GO:0009617 [response to bacterium] GO:0010038 [response to metal ion] GO:0014070 [response to organic cyclic compound] GO:0030324 [lung development] GO:0032868 [response to insulin] GO:0032869 [cellular response to insulin stimulus] GO:0032870 [cellular response to hormone stimulus] GO:0033555 [multicellular organismal response to stress] GO:0033574 [response to testosterone] GO:0033762 [response to glucagon] GO:0034014 [response to triglyceride] GO:0034284 [response to monosaccharide] GO:0034696 [response to prostaglandin F] GO:0042493 [response to drug] GO:0042594 [response to starvation] GO:0043434 [response to peptide hormone] GO:0044255 [cellular lipid metabolic process] GO:0044281 [small molecule metabolic process] GO:0045471 [response to ethanol] GO:0046950 [cellular ketone body metabolic process] GO:0046951 [ketone body biosynthetic process] GO:0051384 [response to glucocorticoid] GO:0051591 [response to cAMP] GO:0060416 [response to growth hormone] GO:0060612 [adipose tissue development] GO:0070542 [response to fatty acid] GO:0070543 [response to linoleic acid] GO:0071222 [cellular response to lipopolysaccharide] GO:0071230 [cellular response to amino acid stimulus] GO:0071385 [cellular response to glucocorticoid stimulus] GO:0071398 [cellular response to fatty acid] GO:0071407 [cellular response to organic cyclic compound]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)