Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQP GPNTTAAPVDSGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCS PEDPCQETVSKPEVSKEATADQGSRLESAAPPEPAPEPAPQPDPRPDSQP TPKPALQPELPTQEDPTPEILSESVGEKQENGAVVPLQAGDGEEGPAPEP HSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPRGSLSRHPSSQ LAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK
    • Amino acids
      1 to 340
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164976 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
    • interferon induced transmembrane protein domain containing 1
    • BFIC2
    • BFIS2
    • Dispanin subfamily B member 3
    • DSPB3
    • Dystonia 10
    • DYT10
    • EKD1
    • FICCA
    • FLJ25513
    • ICCA
    • IFITMD1
    • Infantile convulsions and paroxysmal choreoathetosis
    • PKC
    • Proline rich transmembrane protein 2
    • Proline-rich transmembrane protein 2
    • PRRT2
    • PRRT2_HUMAN
    see all
  • Involvement in disease
    Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681).
    Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sequence similarities
    Belongs to the CD225/Dispanin family.
  • Cellular localization
    Cell membrane. Cell junction > synapse.
  • Information by UniProt

Images

  • ab164976 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164976 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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