ABclonal Technology MVK Rabbit mAb

Supplier:  ABclonal Technology A20906100UL

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

Catalog No. 50-000-08026