Description

  • Product name

    Recombinant Human ATPAF2 protein
  • Expression system

    Wheat germ
  • Protein length

    Full length protein
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Sequence

      MWRSCLRLRDGGRRLLNRPAGGPSASMSPGPTIPSPARAYAPPTERKRFY QNVSITQGEGGFEINLDHRKLKTPQAKLFTVPSEALAIAVATEWDSQQDT IKYYTMHLTTLCNTSLDNPTQRNKDQLIRAAVKFLDTDTICYRVEEPETL VELQRNEWDPIIEWAEKRYGVEISSSTSIMGPSIPAKTREVLVSHLASYN TWALQGIEFVAAQLKSMVLTLGLIDLRLTVEQAVLLSRLEEEYQIQKWGN IEWAHDYELQELRARTAAGTLFIHLCSESTTVKHKLLKE
    • Amino acids

      1 to 289
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164870 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • ATP synthase mitochondrial F1 complex assembly factor 2
    • ATP12
    • ATP12 homolog
    • ATP12p
    • LP3663
    • MC5DN1
    see all
  • Relevance

    ATPAF2 belongs to the ATP12 family. It may play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). Defects in ATPAF2 are the cause of complex V mitochondrial respiratory chain ATPAF2 subunit deficiency (ATPAF2 deficiency) [MIM:604273]; also called ATP synthase deficiency or ATPase deficiency. ATPAF2 deficiency seems to be an early presenting disease in which lactic acidosis, dysmorphic features, and methyl glutaconic aciduria can be major clues in the diagnosis. Dysmorphic features include a large mouth, prominent nasal bridge, micrognathia, rocker-bottom feet and flexion contractures of the limbs associated with camptodactyly. Patients are hypertonic and have an enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebro spinal fluid (CSF).
  • Cellular localization

    Mitochondrion

Images

  • ab164870 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164870 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

There are currently no Customer reviews or Questions for ab164870.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY. NOT FOR USE IN DIAGNOSTIC PROCEDURES"
For licensing inquiries, please contact partnerships@abcam.com

Sign up