Recombinant Human LRRC8A protein (ab163372)

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Overview

  • Product name
    Recombinant Human LRRC8A protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      QNLAITANRIETLPPELFQCRKLRALHLGNNVLQSLPSRVGELTNLTQIE LRGNRLECLPVELGECPLLKRSGLVVEEDLFNTLPPEVKERLWRADKEQA
    • Amino acids
      711 to 810
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab163372 in the following tested applications.

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

  • Applications

    ELISA

    Western blot

  • 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
    • AGM5
    • FLJ10337
    • FLJ41617
    • KIAA1437
    • Leucine rich repeat containing 8 family member A
    • Leucine rich repeat containing protein 8A
    • Leucine-rich repeat-containing protein 8A
    • LRC8A_HUMAN
    • LRRC8
    • Lrrc8a
    see all
  • Function
    Involved in B-cell development. Required for the pro-B cell to pre-B cell transition.
  • Tissue specificity
    Expressed in brain, kidney, ovary, lung, liver, heart, and fetal brain and liver. Found at high levels in bone marrow; lower levels are detected in peripheral blood cells. Expressed on T-cells as well as on B-lineage cells.
  • Involvement in disease
    Defects in LRRC8A are the cause of agammaglobulinemia type 5 (AGM5) [MIM:613506]. It is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.
  • Sequence similarities
    Contains 17 LRR (leucine-rich) repeats.
  • Cellular localization
    Membrane.
  • Information by UniProt

Images

  • ab163372 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab163372 has not yet been referenced specifically in any publications.

Publishing research using ab163372? Please let us know so that we can cite the reference in this datasheet.

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