Rabbit anti-Human MVK Monoclonal Antibody

Uniprot Id

Q03426

Target Species

Human

Target Name

MVK

Target Full Name

Mevalonate kinase

Target Function

Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis.

Target Involvement

Mevalonic aciduria (MEVA); Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); Porokeratosis 3, multiple types (POROK3)

Target Subcellular Location

Cytoplasm. Peroxisome.

Target Protein Families

GHMP kinase family, Mevalonate kinase subfamily

Target Synonyms

FLJ96772; KIME_HUMAN; LH receptor mRNA binding protein; LRBP; Mevalonate kinase 1; Mevalonate kinase; Mevalonic aciduria; MK; mvk; MVLK; POROK3

Target Background

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.