Products

Western Blot (Transfected lysate)

Immunoprecipitation

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

MVK

Gene Alias

FLJ96772, LRBP, MK, MVLK

Gene Description

mevalonate kinase

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

LH receptor mRNA-binding protein|mevalonic aciduria