HMGCS2

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

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
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p12 Start 119,748,002 bp[1] End 119,768,905 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.2|3 42.74 cM Start 98,280,435 bp[2] End 98,310,738 bp[2]
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
Species	Human	Mouse
Entrez	3158	15360
Ensembl	ENSG00000134240	ENSMUSG00000027875
UniProt	P54868	P54869
RefSeq (mRNA)	NM_001166107 NM_005518	NM_008256
RefSeq (protein)	NP_001159579 NP_005509	NP_032282
Location (UCSC)	Chr 1: 119.75 – 119.77 Mb	Chr 3: 98.28 – 98.31 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[5]

References

1. GRCh38: Ensembl release 89: ENSG00000134240 - Ensembl, May 2017
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.
5. "Entrez Gene: 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)".

External links

• Overview of all the structural information available in the PDB for UniProt: P54868 (Human Hydroxymethylglutaryl-CoA synthase, mitochondrial) at the PDBe-KB.