MVK Rabbit Polyclonal Antibody (ER2001-64)

UNIPROT #

Q03426

PROTEIN NAME

MVK

SYNONYMS

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

SUBCELLULAR LOCATION

Cytoplasm, Peroxisome.

FUNCTION

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.