| Protein Name | mevalonate kinase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 4598 |
| Gene Symbol | MVK |
| UniProt | Q03426 (KIME_HUMAN), B2RDU6 (B2RDU6_HUMAN), F5H8H2 (F5H8H2_HUMAN), B7Z301 (B7Z301_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
138
Total Number of Articles : 151 |
Description |
mevalonate kinase |
| Gene Summary |
This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] |
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| Properties | |