PRRT2 Antibody

Product Specifications

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

Available Sizes

Curated Selection

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