Worm gene name:  Y42G9A.4
Worm sequence name:  Y42G9A.4
Related human gene:  Mevalonate kinase
Associated human disease:  Mevalonic aciduria
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Left primer sequence:  caggttttcttcgcttttcg
Right primer sequence:  actgatcctcacacgaaccc
Size of PCR product:  490
Brief description:  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. Two transcript variants that encode the same protein have been found for this gene.
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