Conjugation: FITC: Fluorescein Isothiocyanate
Description of Target: MVK is 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.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.
Immunogen: The immunogen is a synthetic peptide directed towards the middle region of human MVK
Key Reference: Gattorno,M., (2008) (er) Arthritis Rheum. 58 (6), 1823-1832
Molecular Weight: 42kDa
Peptide Sequence: Synthetic peptide located within the following region:
KEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPProduct Format: Liquid. Purified antibody supplied in 1x PBS buffer.
Protein Name: Mevalonate kinase
Protein Size: 396
Purification: Affinity Purified
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