HMGCS2

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3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbol HMGCS2
External IDs OMIM600234 HomoloGene38066 GeneCards: HMGCS2 Gene
EC number 2.3.3.10
Orthologs
Species Human Mouse
Entrez 3158 15360
Ensembl ENSG00000134240 ENSMUSG00000027875
UniProt P54868 P54869
RefSeq (mRNA) NM_001166107 NM_008256
RefSeq (protein) NP_001159579 NP_032282
Location (UCSC) Chr 1:
120.29 – 120.31 Mb
Chr 3:
98.28 – 98.31 Mb
PubMed search [1] [2]

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) is an enzyme in humans that is encoded by the HMGCS2 gene.[1]

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.[1]

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