Description

  • Product name

    Recombinant Human AIPL1 protein
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Predicted molecular weight

      31 kDa
    • Amino acids

      57 to 320
    • Tags

      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127063 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

  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20ºC.

    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride

  • Reconstitution
    Reconstitute with water to desired concentration.

General Info

  • Alternative names

    • A930007I01Rik
    • Aipl1
    • AIPL1_HUMAN
    • AIPL2
    • Aryl hydrocarbon interacting protein like 1
    • Aryl hydrocarbon receptor interacting protein like 1
    • Aryl-hydrocarbon-interacting protein-like 1
    • LCA4
    • MGC25485
    • OTTHUMP00000128207
    • OTTMUSP00000006382
    • RP23-401C17.1
    see all
  • Function

    May be important in protein trafficking and/or protein folding and stabilization.
  • Tissue specificity

    Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
  • Involvement in disease

    Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.
  • Sequence similarities

    Contains 1 PPIase FKBP-type domain.
    Contains 3 TPR repeats.
  • Cellular localization

    Cytoplasm. Nucleus.
  • Information by UniProt

References

ab127063 has not yet been referenced specifically in any publications.

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