Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDK PGPKLDSRAEACFVNCVERFIDTSQFILNRLEQTQKSKPVFSESLSD
    • Molecular weight
      13 kDa including tags
    • Amino acids
      1 to 97
    • Tags
      His tag N-Terminus
    • Additional sequence information
      (NP_004076)

Specifications

Our Abpromise guarantee covers the use of ab174417 in the following tested applications.

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

  • Applications

    SDS-PAGE

    Mass Spectrometry

  • Mass spectrometry
    MALDI-TOF
  • Purity
    >90% by SDS-PAGE.
    ab174417 was purified using conventional chromatography.
  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

General Info

  • Alternative names
    • DDP
    • DDP 1
    • DDP1
    • Deafness dystonia protein 1
    • Deafness/dystonia peptide
    • DFN 1
    • DFN1
    • MGC12262
    • Mitochondrial import inner membrane translocase subunit Tim8 A
    • MTS
    • TIM 8A
    • TIM8
    • TIM8A
    • TIM8A_HUMAN
    • TIMM 8A
    • timm8a
    • Translocase of inner mitochondrial membrane 8 homolog A
    • X linked deafness dystonia protein
    • X-linked deafness dystonia protein
    see all
  • Function
    Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.
  • Tissue specificity
    Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.
  • Involvement in disease
    Defects in TIMM8A are the cause of Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]; also known as dystonia-deafness syndrome (DDS) or X-linked progressive deafness type 1 (DFN-1). It is a recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness.
    Defects in TIMM8A are the cause of Jensen syndrome (JENSS) [MIM:311150]; also known as opticoacoustic nerve atrophy with dementia. This X-linked disease is characterized by deafness, blindness and muscle weakness.
  • Sequence similarities
    Belongs to the small Tim family.
  • Domain
    The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane.
  • Cellular localization
    Mitochondrion inner membrane.
  • Information by UniProt

Images

  • 15% SDS-PAGE analysis of ab174417 (3 µg)

References

ab174417 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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