PRRT2 Antilichaam

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.

112476

Q7Z6L0

NP_001243371

Human, Mouse, Rat

Unconjugated

Primary Antibodies

Stem Cell

PRRT2 Antibody is affinity chromatography purified via peptide column.

Cat. No. 1403 - Mouse Brain Tissue Lysate

1 mg/mL

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

None

Blue Ice

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

IgG

Multiple isoforms of PRRT2 are known to exist.

PRRT2

Proline-rich transmembrane protein 2

Homo sapiens

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

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

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

ELISA, WB, IHC-P, IF

374253783

Liquid