General description
Proline-rich transmembrane protein 2 (PRRT2) has two transmembrane domains. PRRT2 is highly expressed in nervous system and spinal cord and less expressed in heart, lung, kidney and skin. In human chromosome, the gene PRRT2 is localized on 16p11.2.
Biochem/physiol Actions
Prrt2 is found in the pre- and post- synaptic membranes and is associated with Synaptosomal nerve-associated protein 25 (SNAP25). Prrt2 promotes neurotransmitter release and glutamine signalling. Mutations in PRRT2 impairs glutamine release. Mutations in PRRT2 leads to delay in neuronal migration and synaptic loss. Truncating mutations in PRRT2 causes paroxysmal kinesigenic dyskinesia. Mutations in PRRT2 also causes epilepsy and mental retardation. Mutation of PRRT2 in children causes infantile convulsions and choreoathetosis (ICCA) syndrome and in adolescent leads to onset-movement disorder.
Features and Benefits
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Physical form
Supplied at 1 mg/mL in PBS with 0.02% sodium azide.
Other Notes
The action of this antibody can be blocked using blocking peptide SBP3500863.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
| biological source | rabbit |
| Quality Level | 100 |
| conjugate | unconjugated |
| antibody form | affinity isolated antibody |
| antibody product type | primary antibodies |
| clone | polyclonal |
| form | buffered aqueous solution |
| mol wt | predicted mol wt 43 kDa |
| species reactivity | rat, mouse, human |
| technique(s) | ELISA: suitable,immunofluorescence: suitable,immunohistochemistry: suitable,western blot: suitable |
| UniProt accession no. | Q7Z6L0 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... PRRT2(112476) |
