| MVK |
| LOCUS ID | 4598 | ||||||||||
| GENE_SYMBOL | MVK | ||||||||||
| GENE NAME | mevalonate kinase | ||||||||||
| SYNONYMNS | MK LRBP MVLK POROK3 | ||||||||||
| CHROMOSOME | 12 | ||||||||||
| HOMOLOGENE ID | 372 |
| microRNAs | NA | NA |
| 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 characterize |
| OBSERVATIONS |
|---|
| Complication | Evidence | PMID |
| Insulin resistance and inflammation | 1. PTN and MK modulate the immune response and/or inflammation in different pathologies characterized by peripheral inflammation associated with insulin resistance, such as aging, and in central disorders characterized by overt neuroinflammation, such as neurodegenerative diseases and endotoxemia | 31031625 |