| HMGCS2 |
| LOCUS ID | 3158 | ||||||||||
| GENE_SYMBOL | HMGCS2 | ||||||||||
| GENE NAME | 3-hydroxy-3-methylgl | ||||||||||
| SYNONYMNS | NA | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 38066 |
| microRNAs | NA | NA |
| 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 |
| Nephropathy | 1. 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 |