MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001468

UniProt Annotations

Entry Information
Gene Name3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Protein EntryHMCS2_HUMAN
UniProt IDP54868
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P54868-1; Sequence=Displayed; Name=2; IsoId=P54868-2; Sequence=VSP_042892; Note=No experimental confirmation available.; Name=3; Synonyms=HMGCS2delta4; IsoId=P54868-3; Sequence=VSP_047445;
Catalytic ActivityAcetyl-CoA + H(2)O + acetoacetyl-CoA = (S)-3- hydroxy-3-methylglutaryl-CoA + CoA. {ECO:0000255|PROSITE- ProRule:PRU10116}.
DiseaseHMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]: 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. {ECO:0000269|PubMed:11228257, ECO:0000269|PubMed:11479731, ECO:0000269|PubMed:12647205}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.
PathwayMetabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3.
SimilarityBelongs to the HMG-CoA synthase family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHomodimer. {ECO:0000269|PubMed:20346956}.
Tissue SpecificityExpression in liver is 200-fold higher than in any other tissue. Low expression in colon, kidney, testis, and pancreas. Very low expression in heart and skeletal muscle. Not detected in brain. The relative expression of isoform 3 (at mRNA level) is highest in heart (70%) and skeletal muscle (60%). {ECO:0000269|PubMed:16940161, ECO:0000269|PubMed:21952825, ECO:0000269|PubMed:7893153}.
  logo