Description

  • Product name

    Recombinant Human PITPnm 3 protein
  • Expression system

    Escherichia coli
  • Accession

  • Protein length

    Protein fragment
  • Animal free

    No
  • Nature

    Recombinant
    • Species

      Human
    • Predicted molecular weight

      26 kDa
    • Amino acids

      237 to 478
    • Tags

      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127327 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

    • CORD5
    • Membrane associated phosphatidylinositol transfer protein 3
    • membrane-associated 3
    • Membrane-associated phosphatidylinositol transfer protein 3
    • MGC157740
    • MGC157741
    • NIR 1
    • NIR-1
    • NIR1
    • Phosphatidylinositol transfer protein
    • Phosphatidylinositol transfer protein, membrane-associated 3
    • PITM3_HUMAN
    • PITPNM
    • PITPnm 3
    • PITPNM family member 3
    • Pitpnm3
    • PYK2 N terminal domain interacting receptor 1
    • Pyk2 N-terminal domain-interacting receptor 1
    • RDGBA3
    • Retinal degeneration B alpha 3
    see all
  • Function

    Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
  • Tissue specificity

    Detected in brain and spleen, and at low levels in ovary.
  • Involvement in disease

    Defects in PITPNM3 are the cause of cone-rod dystrophy type 5 (CORD5) [MIM:600977]. CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
  • Sequence similarities

    Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
    Contains 1 DDHD domain.
  • Cellular localization

    Endomembrane system.
  • Information by UniProt

References

ab127327 has not yet been referenced specifically in any publications.

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