Anti-MVK antibody - Aminoterminal end (ab71458)

Overview

  • Product name
    Anti-MVK antibody - Aminoterminal end
    See all MVK primary antibodies
  • Description
    Rabbit polyclonal to MVK - Aminoterminal end
  • Tested applications
    Suitable for: ELISA, WBmore details
  • Species reactivity
    Reacts with: Mouse, Human
  • Immunogen

    Synthetic peptide (Human) conjugated to KLH

  • Positive control
    • Mouse kidney cytoplasmic lysate

Properties

Applications

Our Abpromise guarantee covers the use of ab71458 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

Application Abreviews Notes
ELISA 1/1000.
WB 1/100 - 1/500. Detects a band of approximately 42 kDa.

Target

  • Function
    May be a regulatory site in cholesterol biosynthetic pathway.
  • Pathway
    Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.
  • Involvement in disease
    Defects in MVK are the cause of mevalonic aciduria (MEVA) [MIM:610377]. 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) [MIM:260920]. 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.
  • Sequence similarities
    Belongs to the GHMP kinase family. Mevalonate kinase subfamily.
  • Cellular localization
    Cytoplasm. Peroxisome.
  • Information by UniProt
  • Database links
  • Alternative names
    • FLJ96772 antibody
    • KIME_HUMAN antibody
    • LH receptor mRNA binding protein antibody
    • LRBP antibody
    • Mevalonate kinase 1 antibody
    • Mevalonate kinase antibody
    • Mevalonic aciduria antibody
    • MK antibody
    • mvk antibody
    • MVLK antibody
    • POROK3 antibody
    see all

Images

References

ab71458 has not yet been referenced specifically in any publications.

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