EC Number | Application | Comment | Organism |
---|---|---|---|
4.1.3.4 | 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 |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
4.1.3.4 | additional information | c.494G to T, p.Arg165Gln, missense mutation in the 3-hydroxy-3-methylglutaryl CoA lyase gene | Homo sapiens |
4.1.3.4 | additional information | IVS3+1G to A, slice site mutation | Homo sapiens |
4.1.3.4 | additional information | IVS6-1G to A slice site mutation | Homo sapiens |
EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|---|
4.1.3.4 | mitochondrion | - |
Homo sapiens | 5739 | - |
EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|---|
4.1.3.4 | 31600 | - |
- |
Homo sapiens |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
4.1.3.4 | (S)-3-Hydroxy-3-methylglutaryl-CoA | Homo sapiens | - |
Acetyl-CoA + acetoacetate | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
4.1.3.4 | Homo sapiens | - |
- |
- |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
4.1.3.4 | (S)-3-Hydroxy-3-methylglutaryl-CoA | - |
Homo sapiens | Acetyl-CoA + acetoacetate | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
4.1.3.4 | 3-hydroxy-3-methylglutaryl CoA lyase | - |
Homo sapiens |
4.1.3.4 | HMGCL | - |
Homo sapiens |