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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.
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: LIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
Sequence Similarities: Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
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;

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