MVK polyclonal antibody
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Specification
Product Description
Rabbit polyclonal antibody raised against synthetic peptide of MVK.
Immunogen
A synthetic peptide (conjugated with KLH) corresponding to N-terminus of human MVK.
Host
Rabbit
Reactivity
Human
Form
Liquid
Purification
Protein G purification
Recommend Usage
ELISA (1:1000)
Western Blot (1:100-500)
The optimal working dilution should be determined by the end user.Storage Buffer
In PBS (0.09% sodium azide)
Storage Instruction
Store at 4°C. For long term storage store at -20°C.
Aliquot to avoid repeated freezing and thawing.Note
This product contains sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Applications
Western Blot (Tissue lysate)
Western blot analysis of MVK polyclonal antibody (Cat # PAB4055) in mouse kidney tissue lysate (35 ug/lane). MVK (arrow) was detected using the purified polyclonal antibody (1 : 60 dilution).Enzyme-linked Immunoabsorbent Assay
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Gene Info — MVK
Entrez GeneID
4598Protein Accession#
NP_000422Gene Name
MVK
Gene Alias
FLJ96772, LRBP, MK, MVLK
Gene Description
mevalonate kinase
Gene Ontology
HyperlinkGene Summary
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
Other Designations
LH receptor mRNA-binding protein|mevalonic aciduria
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Interactome
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Pathway
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Disease
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Publication Reference
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Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kery A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
Arthritis and Rheumatism 2004 Jun; 50(6):1951.
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Mevalonate kinase deficiency: Evidence for a phenotypic continuum.
Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP.
Neurology 2004 Mar; 62(6):994.
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Isolation and characterization of a novel trans-factor for luteinizing hormone receptor mRNA from ovary.
Nair AK, Menon KM.
The Journal of Biological Chemistry 2004 Apr; 279(15):14937.
Application:WB-Re, Recombinant protein.
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Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
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