Cloned (Comment) | Organism |
---|---|
gene MVK, location on chromosome 12q24 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
S378P/V377I/R92Q | naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview | Homo sapiens |
V377I/R92Q | naturally occuring mutation in the MVK gene, the mutation leads to reduced enzyme activity, which participates in the development of the hyperimmunoglobulinemia D and periodic fever syndrome, HIDS, an autosomal recessively inherited autoinflammatory disease, R92Q is a low-penetrance mutation, phenotype, overview | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | - |
Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + (R)-mevalonate | Homo sapiens | - |
ADP + (R)-5-phosphomevalonate | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + (R)-mevalonate | - |
Homo sapiens | ADP + (R)-5-phosphomevalonate | - |
? |
Synonyms | Comment | Organism |
---|---|---|
MVK | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |