Overview

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceC-SWARGPPKFESVP
    • Amino acids962 to 974

Specifications

Our Abpromise guarantee covers the use of ab45573 in the following tested applications.

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

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

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
  • FunctionCatalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions.
  • Tissue specificityDetected in brain and spleen, and at low levels in ovary.
  • Involvement in diseaseDefects 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 similaritiesBelongs to the PtdIns transfer protein family. PI transfer class IIA subfamily.
    Contains 1 DDHD domain.
  • Cellular localizationEndomembrane system.
  • Information by UniProt

References for Human NIR1 peptide (ab45573)

ab45573 has not yet been referenced specifically in any publications.

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