Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      RPQEEPPAEEDLQQITVQVEPACSVEIVVPKEEDAGVEASPAGASAAVEV ETASQASDEEGAPASQASDEEDAPATDIYFPTDERSWVYSPLHYSAQAPP ASDGESD
    • Amino acids
      561 to 667
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab161624 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

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • 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: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • Diphosphoinositide kinase
    • LCCS3
    • Phosphatidylinositol-4-phosphate 5-kinase type I gamma
    • Phosphatidylinositol-4-phosphate 5-kinase type-1 gamma
    • PI51C
    • PI51C_HUMAN
    • PIP5K GAMMA
    • PIP5K1-gamma
    • Pip5k1c
    • PIP5KIgamma
    • PtdIns(4)P 5 kinase gamma
    • PtdIns(4)P-5-kinase 1 gamma
    • Type I PIP kinase
    see all
  • Function
    Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.
  • Involvement in disease
    Defects in PIP5K1C are the cause of lethal congenital contracture syndrome type 3 (LCCS3) [MIM:611369]; also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia.
  • Sequence similarities
    Contains 1 PIPK domain.
  • Cellular localization
    Cell membrane. Cytoplasmic, associated with the plasma membrane. Detected in focal adhesion plaques, membrane ruffles and plasma membrane invaginations.
  • Information by UniProt

Images

  • ab161624 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab161624 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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