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Target not currently curated in GtoImmuPdb
Target id: 2432
Nomenclature: hydroxymethylglutaryl-CoA synthase 2
Family: Lanosterol biosynthesis pathway
Gene and Protein Information  |
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| Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | - | 508 | 1p12 | HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | 2 |
| Mouse | - | 508 | 3 42.74 cM | Hmgcs2 | 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 | |
| Rat | - | 508 | 2q34 | Hmgcs2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | |
| Previous and Unofficial Names |
| mitochondrial HMGCoA synthase | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) |
| Database Links |
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| Alphafold | P54868 (Hs), P54869 (Mm), P22791 (Rn) |
| BRENDA | 2.3.3.10 |
| CATH/Gene3D | 3.40.47.10 |
| Ensembl Gene | ENSG00000134240 (Hs), ENSMUSG00000027875 (Mm), ENSRNOG00000019120 (Rn) |
| Entrez Gene | 3158 (Hs), 15360 (Mm), 24450 (Rn) |
| Human Protein Atlas | ENSG00000134240 (Hs) |
| KEGG Enzyme | 2.3.3.10 |
| KEGG Gene | hsa:3158 (Hs), mmu:15360 (Mm), rno:24450 (Rn) |
| OMIM | 600234 (Hs) |
| Orphanet | ORPHA122453 (Hs) |
| Pharos | P54868 (Hs) |
| RefSeq Nucleotide | NM_001166107 (Hs), NM_005518 (Hs), NM_008256 (Mm) |
| RefSeq Protein | NP_005509 (Hs), NP_001159579 (Hs), NP_032282 (Mm), NP_775117 (Rn) |
| UniProtKB | P54868 (Hs), P54869 (Mm), P22791 (Rn) |
| Wikipedia | HMGCS2 (Hs) |
| Selected 3D Structures |
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| Enzyme Reaction |
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| Tissue Distribution
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| Clinically-Relevant Mutations and Pathophysiology
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| Gene Expression and Pathophysiology
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| General Comments |
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HMGCoA synthase is found in cytosolic (HMGCoA synthase 1) and mitochondrial (HMGCoA synthase 2) versions; the former associated with |
1. Bouchard L, Robert MF, Vinarov D, Stanley CA, Thompson GN, Morris A, Leonard JV, Quant P, Hsu BY, Boneh A et al.. (2001) Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. Pediatr Res, 49 (3): 326-31. [PMID:11228257]
2. Boukaftane Y, Mitchell GA. (1997) Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene. Gene, 195 (2): 121-6. [PMID:9305755]
3. Camarero N, Mascaró C, Mayordomo C, Vilardell F, Haro D, Marrero PF. (2006) 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 (9): 645-53. [PMID:16940161]
4. Mascaró C, Buesa C, Ortiz JA, Haro D, Hegardt FG. (1995) Molecular cloning and tissue expression of human mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. Arch Biochem Biophys, 317 (2): 385-90. [PMID:7893153]
5. Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I et al.. (2012) 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 (4): 4777-85. [PMID:21952825]
6. Shafqat N, Turnbull A, Zschocke J, Oppermann U, Yue WW. (2010) Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. J Mol Biol, 398 (4): 497-506. [PMID:20346956]
7. Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA. (1997) Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase. N Engl J Med, 337 (17): 1203-7. [PMID:9337379]
