Application | Comment | Organism |
---|---|---|
medicine | 3-hydroxy-3-methylglutaryl CoA lyase deficiency is a rare autosomal recessive mitochondrial disease characterized by a deficiency in the enzyme 3-hydroxy-3-methylglutaryl CoA lyase | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | c.494G to T, p.Arg165Gln, missense mutation in the 3-hydroxy-3-methylglutaryl CoA lyase gene | Homo sapiens |
additional information | IVS3+1G to A, slice site mutation | Homo sapiens |
additional information | IVS6-1G to A slice site mutation | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
mitochondrion | - |
Homo sapiens | 5739 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
31600 | - |
- |
Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
(S)-3-Hydroxy-3-methylglutaryl-CoA | Homo sapiens | - |
Acetyl-CoA + acetoacetate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
(S)-3-Hydroxy-3-methylglutaryl-CoA | - |
Homo sapiens | Acetyl-CoA + acetoacetate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
3-hydroxy-3-methylglutaryl CoA lyase | - |
Homo sapiens |
HMGCL | - |
Homo sapiens |