LMPD Database

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LMP002403

UniProt Annotations

Entry Information
Gene Name3-hydroxymethyl-3-methylglutaryl-CoA lyase
Protein EntryHMGCL_HUMAN
UniProt IDP35914
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P35914-1; Sequence=Displayed; Name=2; Synonyms=HMGCS2delta5,6; IsoId=P35914-2; Sequence=VSP_047444; Note=The transcript is not translated, but would result in a catatically impaired product if it was.; Name=3; Synonyms=HMGCS2delta5,6,7; IsoId=P35914-3; Sequence=VSP_047444, VSP_043788; Note=Very low expression. The transcript is not translated, but would result in a catatically inactive product if it was.;
Biophysicochemical PropertiesKinetic parameters: KM=200 uM for magnesium ion {ECO
Catalytic Activity(S)-3-hydroxy-3-methylglutaryl-CoA = acetyl- CoA + acetoacetate. {ECO
CofactorName=a divalent metal cation; Xref=ChEBI
Disease3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM
Enzyme RegulationStimulated by reducing agents such as dithiothreitol (DTT).
FunctionKey enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism. {ECO
PathwayMetabolic intermediate metabolism; (S)-3-hydroxy-3- methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3- methylglutaryl-CoA
SimilarityBelongs to the HMG-CoA lyase family.
Subcellular LocationMitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal.
SubunitHomodimer; disulfide-linked. Can also form homotetramers.
Tissue SpecificityHighest expression in liver. Expressed in pancreas, kidey, intestine, testis, fibroblasts and lymphoblasts. Very low expression in brain and skeletal muscle. The relative expression of isoform 2 (at mRNA level) is highest in heart (30%), skeletal muscle (22%), and brain (14%).