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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2
External IDsOMIM: 600234 MGI: 101939 HomoloGene: 38066 GeneCards: HMGCS2
Orthologs
SpeciesHumanMouse
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 MbChr 3: 98.19 – 98.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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] Mutations in this gene are associated with HMG-CoA synthase deficiency[7] (also known as HMGCS2D), affecting ketone body synthesis.

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

Occurrence

HMGCS2 is not found in cetaceans, elephantids, or Old World fruit bats.[8]

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)".
  6. Drabbe S, Pelzer A, Slenter D, Willighagen E (February 2023). "Disorders in ketone body synthesis (Homo sapiens)". Wiki Pathways.
  7. Aledo R, Mir C, Dalton RN, Turner C, Pié J, Hegardt FG, et al. (February 2006). "Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency". Journal of Inherited Metabolic Disease. 29 (1): 207–211. doi:10.1007/s10545-006-0214-2. PMID 16601895. S2CID 24866271.
  8. Jebb D, Hiller M (October 2018). "Recurrent loss of HMGCS2 shows that ketogenesis is not essential for the evolution of large mammalian brains". eLife. 7: e38906. doi:10.7554/eLife.38906. PMC 6191284. PMID 30322448.
  • Overview of all the structural information available in the PDB for UniProt: P54868 (Human Hydroxymethylglutaryl-CoA synthase, mitochondrial) at the PDBe-KB.



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