MVK Mouse Monoclonal Antibody [Clone ID: LBI 1D7]

MVK

Metabolic pathways, Terpenoid backbone biosynthesis

Full length human recombinant protein of human MVK (NP_000422) produced in HEK293T cell.

MVK

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. [provided by RefSeq, Jul 2008]

1 mg/ml

WB 1:2000, IF 1:100

Metabolic pathways, Terpenoid backbone biosynthesis