HMGCS2
LOCUS ID3158
GENE_SYMBOLHMGCS2
GENE NAME3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)
SYNONYMNSNA
CHROMOSOME1
HOMOLOGENE ID38066
microRNAsNANA
GENE SUMMARY
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. Altertively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Collectively, these findings demonstrate that diabetic kidneys exhibit excess ketogenic activity ing from increased HMGCS2 expression. Enhanced ketone body production in the diabetic kidney may represent a novel mechanism involved in the pathogenesis of DN.20959534