HMGCS2

HMGCS2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2WYA
Identifiers
Aliases	HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
External IDs	OMIM: 600234; MGI: 101939; HomoloGene: 38066; GeneCards: HMGCS2; OMA:HMGCS2 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	119,768,905 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	98,218,054 bp
RNA expression pattern
	Top expressed in
	right lobe of liver; ; mucosa of transverse colon; ; jejunal mucosa; ; rectum; ; mucosa of sigmoid colon; ; duodenum; ; renal medulla; ; human kidney; ; thoracic diaphragm; ; apex of heart;
	Top expressed in
	left lobe of liver; ; lumbar spinal ganglion; ; Stroma of ovary; ; migratory enteric neural crest cell; ; retinal pigment epithelium; ; duodenum; ; gastrula; ; tunica media of zone of aorta; ; vestibular sensory epithelium; ; sexually immature organism;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; catalytic activity; hydroxymethylglutaryl-CoA synthase activity;
Cellular component	mitochondrion; mitochondrial matrix;
Biological process	steroid metabolic process; sterol biosynthetic process; lipid metabolism; cholesterol metabolic process; isoprenoid biosynthetic process; cholesterol biosynthetic process; metabolism; steroid biosynthetic process; ketone body biosynthetic process; regulation of lipid metabolic process; acetyl-CoA metabolic process; farnesyl diphosphate biosynthetic process, mevalonate pathway;
	Sources:Amigo / QuickGO
Orthologs
	3158
	15360
	ENSG00000134240
	ENSMUSG00000027875
	P54868
	P54869
	NM_001166107; NM_005518
	NM_008256
	NP_001159579; NP_005509
	NP_032282
	Wikidata
View/Edit Human	View/Edit Mouse

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) is an enzyme in humans that is encoded by the HMGCS2 gene.^[5]

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the second and rate-limiting reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting, by addition of a third acetyl group to acetoacetyl-CoA, producing HMG-CoA.^[6]

Alternatively spliced transcript variants encoding different isoforms have been found for this gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000134240 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027875 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)".
^ Drabbe S, Pelzer A, Slenter D, Willighagen E (February 2023). "Disorders in ketone body synthesis (Homo sapiens)". Wiki Pathways.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000134240 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027875 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)".

[6] Drabbe S, Pelzer A, Slenter D, Willighagen E (February 2023). "Disorders in ketone body synthesis (Homo sapiens)". Wiki Pathways.

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