Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Accession
    • Species
      Human
    • Sequence
      NHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTN TEVRRLEKNVKEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLD AFIEALHQEK
    • Molecular weight
      38 kDa including tags
    • Amino acids
      851 to 960

Associated products

Specifications

Our Abpromise guarantee covers the use of ab114289 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

    SDS-PAGE

  • 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
    • Dynamin like 120 kDa protein
    • Dynamin like 120 kDa protein, mitochondrial
    • Dynamin-like 120 kDa protein, form S1
    • FLJ12460
    • Juvenile kjer type optic atrophy
    • KIAA0567
    • KJER type
    • Large GTP binding protein
    • largeG
    • MGM1
    • Mitochondrial dynamin like 120 kDa protein
    • Mitochondrial dynamin like GTPase
    • NPG
    • NTG
    • OAK
    • OPA 1
    • opa1
    • OPA1 gene
    • OPA1_HUMAN
    • OPTIC ATROPHY 1
    • Optic atrophy 1 (autosomal dominant)
    • Optic atrophy 1 gene protein
    • Optic atrophy 1 homolog (human)
    • Optic atrophy protein 1
    • Optic atrophy protein 1 homolog
    see all
  • Function
    Dynamin-related GTPase required for mitochondrial fusion and regulation of apoptosis. May form a diffusion barrier for proteins stored in mitochondrial cristae. Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space.
  • Tissue specificity
    Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.
  • Involvement in disease
    Defects in OPA1 are a cause of optic atrophy type 1 (OPA1) [MIM:165500]. OPA1 is a dominantly inherited optic neuropathy occurring in 1 in 50,000 individuals that features progressive loss in visual acuity leading, in many cases, to legal blindness.
    Defects in OPA1 are the cause of optic atrophy 1 with deafness (OPA1D) [MIM:125250]. Some individuals with mutations in OPA1 manifest also ophthalmoplegia and myopathy.
  • Sequence similarities
    Belongs to the dynamin family.
  • Post-translational
    modifications
    PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion.
  • Cellular localization
    Mitochondrion inner membrane. Mitochondrion intermembrane space.
  • Information by UniProt

Images

  • ab114289 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References

ab114289 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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