PRRT2 Antibody

• Background :

  PRRT2 Antibody: The proline-rich transmembrane protein 2 (PRRT2) contains a proline-rich domain in its N-terminal half and is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. While little is known of the function of this protein, mutations in PRRT2 have been shown to be the causative gene of paroxysmal kinesigenic dyskinesia, which is characterized by recurrent, brief attacks of abnormal involuntary movements induced by sudden voluntary movements. Recent studies have shown that PRRT2 may also be involved in some forms of benign familial infantile epilepsy (BFIE), an autosomal dominant epilepsy syndrome.

• NCBI Gene ID :

  112476

• Swiss Prot :

  Q7Z6L0

• Accession Number :

  NP_001243371

• Host :

  Rabbit

• Reactivity :

  Human, Mouse, Rat

• Clonality :

  Polyclonal

• Conjugation :

  Unconjugated

• Type :

  Primary Antibodies

• Field of Research :

  Stem Cell

• Purification :

  PRRT2 Antibody is affinity chromatography purified via peptide column.

• Positive Control :

  Cat. No. 1403 - Mouse Brain Tissue Lysate

• Concentration :

  1 mg/mL

• Buffer :

  PRRT2 Antibody is supplied in PBS containing 0.02% sodium azide.

• Modification :

  None

• Shipping Conditions :

  Blue Ice

• Storage Conditions :

  PRRT2 antibody can be stored at 4˚ C for three months and -20˚ C, stable for up to one year.

• Fragment :

  IgG

• Specificity :

  Multiple isoforms of PRRT2 are known to exist.

• Symbol :

  PRRT2

• NCBI Official Name :

  Proline-rich transmembrane protein 2

• NCBI Organism :

  Homo sapiens

• Background Reference 01 :

  Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011; 134:3493-501.

• Background Reference 02 :

  Scheffer IE, Grinton BE, Heron SE, et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012; epub.

• Other Product Names :

  PRRT2 Antibody: PKC, EKD1, ICCA, BFIC2, BFIS2, DSPB3, DYT10, FICCA, IFITMD1, Proline-rich transmembrane protein 2, Dispanin subfamily B member 3

• Tested Applications :

  ELISA, WB, IHC-P, IF

• Protein ID :

  374253783

• Physical Properties :

  Liquid