Recombinant Full Length Human MVK Protein, GST-tagged

• Cat.No.: MVK-6585HF
• Product Overview: Human MVK full-length ORF ( NP_000422.1, 1 a.a. - 396 a.a.) recombinant protein with GST-tag at N-terminal.

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. [provided by RefSeq
• Source: In Vitro Cell Free System
• Species: Human
• Tag: GST
• Molecular Mass: 68.9 kDa
• Protein length: 396 amino acids
• AA Sequence: MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFLEQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYSVCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLKRSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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; mevalonate kinase 1; LH receptor mRNA-binding protein; MVLK; FLJ96772
• Gene ID: 4598
• mRNA Refseq: NM_000431
• Protein Refseq: NP_000422
• MIM: 251170
• UniProt ID: Q03426