ID:HMCS2_HUMAN DESCRIPTION: RecName: Full=Hydroxymethylglutaryl-CoA synthase, mitochondrial; Short=HMG-CoA synthase; EC=2.3.3.10; AltName: Full=3-hydroxy-3-methylglutaryl coenzyme A synthase; Flags: Precursor; FUNCTION: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase. CATALYTIC ACTIVITY: Acetyl-CoA + H(2)O + acetoacetyl-CoA = (S)-3- hydroxy-3-methylglutaryl-CoA + CoA. PATHWAY: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3. SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: High expression in liver and colon. Low expression in testis, heart, skeletal muscle and kidney. DISEASE: Defects in HMGCS2 are the cause of HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]; also known as deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2. Affected individuals present with severe hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with increase of medium and short chain dicarboxylic acids. SIMILARITY: Belongs to the HMG-CoA synthase family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P54868
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006629 lipid metabolic process GO:0006694 steroid biosynthetic process GO:0006695 cholesterol biosynthetic process GO:0008152 metabolic process GO:0008202 steroid metabolic process GO:0008203 cholesterol metabolic process GO:0008299 isoprenoid biosynthetic process GO:0016126 sterol biosynthetic process GO:0019216 regulation of lipid metabolic process GO:0046951 ketone body biosynthetic process
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
