Hydroxymethylglutaryl Coenzyme A Synthase 2, Mitochondrial (HMGCS2)

3-hydroxy-3-methylglutaryl coenzyme A synthase

SPN	T097
HGNC	5008
MGI	101939
PubMed	16940161
RGD	2804
UniProt	P54868
Wiki	HMGCS2

HMGCS2 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.
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMGCS2) mediates the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for brain, heart, kidney, and other organs during times of carbohydrate deprivation such as fasting .

Reference

"Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase."
Arch. Biochem. Biophys. 317:385-390(1995) [PubMed] [Europe PMC] [Abstract]

"Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene."
Gene 195:121-126(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution."
Genomics 23:552-559(1994) [PubMed] [Europe PMC] [Abstract]

"Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway."
Mol. Biol. Rep. 39:4777-4785(2012) [PubMed] [Europe PMC] [Abstract]

"Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer."
Mol. Cancer Res. 4:645-653(2006) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design."
J. Mol. Biol. 398:497-506(2010) [PubMed] [Europe PMC] [Abstract]

"Genetic basis of mitochondrial HMG-CoA synthase deficiency."
Hum. Genet. 109:19-23(2001) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients."
Pediatr. Res. 49:326-331(2001) [PubMed] [Europe PMC] [Abstract]

"Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations."
Eur. J. Pediatr. 162:279-280(2003) [PubMed] [Europe PMC] [Abstract]