Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      LIDMNQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKP GLEQPEVEATKQALTSCGFDCLETSIGAPGVSIHSATSLDSRVQQALDGL
    • Molecular weight
      37 kDa including tags
    • Amino acids
      297 to 396

Specifications

Our Abpromise guarantee covers the use of ab116772 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • FLJ96772
    • KIME_HUMAN
    • LH receptor mRNA binding protein
    • LRBP
    • Mevalonate kinase
    • Mevalonate kinase 1
    • Mevalonic aciduria
    • MK
    • mvk
    • MVLK
    • POROK3
    see all
  • 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

Images

  • 12.5% SDS-PAGE showing ab116772 at approximately 36.63kDa stained with Coomassie Blue.

References

ab116772 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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