Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      LRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLP RVFKLFRALGLRHLVVVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT
    • Amino acids
      706 to 805
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab152283 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
    • Chloride channel protein 7
    • CLC 7
    • ClC-7
    • ClC7
    • CLCN7
    • CLCN7_HUMAN
    • FLJ26686
    • FLJ39644
    • FLJ46423
    • H(+)/Cl(-) exchange transporter 7
    • OPTA2
    • OPTB4
    see all
  • Function
    Mediates the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.
  • Tissue specificity
    Brain, testis, muscle and kidney.
  • Involvement in disease
    Defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]; also known as infantile malignant osteopetrosis type 2. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood.
    Defects in CLCN7 are the cause of osteopetrosis autosomal dominant type 2 (OPTA2) [MIM:166600]; also known as autosomal dominant Albers-Schonberg disease or marble disease autosomal dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
  • Sequence similarities
    Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily.
    Contains 2 CBS domains.
  • Cellular localization
    Lysosome membrane.
  • Information by UniProt

Images

  • ab152283 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab152283 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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