Mevalonate Kinase Recombinant Protein | MVK recombinant protein
Recombinant Human Mevalonate Kinase
Sterile Filtered clear solution.
Introduction: MVK is a member of the GHMP kinase family. Mevalonate is a vital mediator, and MVK an important early enzyme, in isoprenoid and sterol synthesis. MVK deficiency can result in gene mutation associated with Mevalonic aciduria, an illness which causes psychomotor retardation, failure to thrive hepatosplenomegaly, anemia and frequent febrile crises. Mutations in this gene also cause hyperimmunoglobulinaemia D and sporadic fever syndrome, in which the person suffers from recurrent episodes of fever related with lymphadenopathy, skin rash, gastrointestinal dismay and arthralgia.
NCBI and Uniprot Product Information
NCBI 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Uniprot Description
MVK: May be a regulatory site in cholesterol biosynthetic pathway. Defects in MVK are the cause of mevalonic aciduria (MEVA). It is an accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Defects in MVK are the cause of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS). HIDS is an autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), athralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
Protein type: RNA-binding; EC 2.7.1.36; Translation; Kinase, other; Secondary Metabolites Metabolism - terpenoid backbone biosynthesis
Chromosomal Location of Human Ortholog: 12q24
Cellular Component: peroxisome; cytosol
Molecular Function: identical protein binding; mevalonate kinase activity; ATP binding
Biological Process: isopentenyl diphosphate biosynthetic process, mevalonate pathway; isoprenoid biosynthetic process; negative regulation of inflammatory response; phosphorylation; cholesterol biosynthetic process
Disease: Porokeratosis 3, Disseminated Superficial Actinic Type; Hyper-igd Syndrome; Mevalonic Aciduria
Research Articles on MVK
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Product Notes
The MVK mvk (Catalog #AAA146116) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: MGSSHHH HHH SSGLVPRGSH MGSMLS EVLL VSAPGKVILH GEHAVVHGKV ALAVSLNLRT FLRLQPHSNG KVDLSLPNIG IKRAWDVARL QSLDTSFLEQ GDVTTPTSEQ VEKLKEVAGL PDDCAVTERL AVLAFLYLYL SICRKQRALP SLDIVVWSEL PPGAGLGSSA AYSVCLAAAL LTVCEEIPNP LKDGDCVNRW TKEDLELINK WAFQGERMIH GNPSGVDNAV STWGGALRYH QGKISSLKRS PALQILLTNT KVPRNTRALV AGVRNRLLKF PEIVAPLLTS IDAISLECER VLGEMGEAPA PEQYLVLEEL IDMNQHHLNA LGVGHASLDQ LCQVTRARGL HSKLTGAGGG GCGITLLKPG LEQPEVEATK QALTSCGFDC LETSIGAPGV SIHSATSLDS RVQQALDGL. It is sometimes possible for the material contained within the vial of "Mevalonate Kinase, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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