Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MGPSIPAKTREVLVSHLASYNTWALQGIEFVAAQLKSMVLTLGLIDLRLT VEQAVLLSRLEEEYQIQKWGNIEWAHDYELQELRARTAAGTLFIHLCSES TTVKHKLLKE
    • Amino acids
      180 to 289
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164871 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

  • ab164871 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164871 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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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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