Recombinant Human SLC12A1 protein (ab114560)

Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ13621
    • SpeciesHuman
    • SequenceAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGSISGPKVNRP SLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQA
    • Molecular weight36 kDa including tags
    • Amino acids80 to 172

Specifications

Our Abpromise guarantee covers the use of ab114560 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • 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: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • BSC1
    • Bumetanide sensitive sodium 3
    • Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
    • Kidney specific Na K Cl symporter
    • Kidney-specific Na-K-Cl symporter
    • MGC48843
    • Na K 2Cl cotransporter
    • NKCC2
    • potassiumchloride cotransporter 2
    • S12A1_HUMAN
    • Slc12a1
    • sodium potassium chloride cotransporter 2
    • solute carrier family 12 (sodium/potassium/chloride transporters)
    • Solute carrier family 12 member 1
    see all
  • FunctionElectrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
  • Tissue specificityKidney specific.
  • Involvement in diseaseDefects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM:601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
  • Sequence similaritiesBelongs to the SLC12A transporter family.
  • Cellular localizationMembrane.
  • Information by UniProt

Recombinant Human SLC12A1 protein images

  • 12.5% SDS-PAGE Stained with Coomassie Blue

References for Recombinant Human SLC12A1 protein (ab114560)

ab114560 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"