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Gene : HMGCS2 Homo sapiens

Name  ? 3-hydroxy-3-methylglutaryl-CoA synthase 2 Cytological Location  1p12
Brief Description  3-hydroxy-3-methylglutaryl-CoA synthase 2
Description  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]
  • synonyms:
  • NM_005518,
  • 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial),
  • HGNC:5008,
  • BC044217,
  • OTTHUMG00000012101,
  • uc001eid.4,
  • HMGCS2,
  • 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)
  • identifiers:
  • 3158,
  • ENSG00000134240,
  • HMGCS2

Genome feature

Region: gene ? Length: 20937  
Location: 1:119747996-119768932 reverse strand Cyto location: 1p12

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1 Diseases

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444 SNPs

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results