LMPD Database

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LMP002585

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
DiseaseHMG-CoA synthase deficiency (HMGCS deficiency) [MIM
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
SimilarityBelongs to the HMG-CoA synthase family.
Subcellular LocationMitochondrion.
SubunitHomodimer.
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