HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2
Gene ID: 3158, updated on 5-Mar-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for HMGCS2
- Go to Variation Viewer for HMGCS2 variants
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | See labs |
Genomic context
- Location:
- 1p12
- Sequence:
- Chromosome: 1; NC_000001.11 (119747996..119768932, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for HMGCS2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HMGCS2 homepage - HMGCS2 @ LOVD
- HMGCS2 homepage - LOVD Australian Human Variome Project
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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