Recombinant Human MVK

• Cat.No.: MVK-26958TH
• Product Overview: Recombinant fragment of Human MVK with an N terminal proprietary tag; Predicted MWt 36.63 kDa.

Specification

• Description: 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.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Source: Wheat germ
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: LIDMNQHHLNALGVGHASLDQLCQV TRARGLHSKLTGAGGGGCGITLLKP GLEQPEVEATKQALTSCGFDCLETS IGAPGVSIHSATSLDSRVQQALDGL
• Sequence Similarities: Belongs to the GHMP kinase family. Mevalonate kinase subfamily.

Gene Information

• Gene Name: MVK mevalonate kinase [ Homo sapiens ]
• Official Symbol: MVK
• Synonyms: MVK; mevalonate kinase; mevalonate kinase (mevalonic aciduria); LH receptor mRNA binding protein; LRBP; mevalonic aciduria; MK
• Gene ID: 4598
• mRNA Refseq: NM_000431
• Protein Refseq: NP_000422
• MIM: 251170
• Uniprot ID: Q03426
• Chromosome Location: 12q24
• Pathway: C5 isoprenoid biosynthesis, mevalonate pathway, organism-specific biosystem; C5 isoprenoid biosynthesis, mevalonate pathway, conserved biosystem; Cholesterol Biosynthesis, organism-specific biosystem; Cholesterol biosynthesis, organism-specific biosystem; Metabolic pathways, organism-specific biosystem
• Function: ATP binding; identical protein binding; mevalonate kinase activity; mevalonate kinase activity; nucleotide binding