产品名称
Anti-PRRT2 antibody produced in rabbit, affinity isolated antibody, buffered aqueous solution
biological source
rabbit
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.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Quality Level
Gene Information
human ... PRRT2(112476)
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.
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.
Features and Benefits
Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.
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.
Other Notes
The action of this antibody can be blocked using blocking peptide SBP3500863.
Physical form
Supplied at 1 mg/mL in PBS with 0.02% sodium azide.
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存储类别
10 - Combustible liquids
flash_point_f
Not applicable
flash_point_c
Not applicable
法规信息
常规特殊物品
此项目有
PRRT2 mutant leads to dysfunction of glutamate signaling
Li M, et al.
International Journal of Molecular Sciences, 16(5), 9134-9151 (2015)
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
Liu YT, et al.
Oncotarget, 7(26), 39184-39184 (2016)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Chen WJ, et al.
Nature Genetics, 43(12), 1252-1252 (2011)
Sarah E Heron et al.
American journal of human genetics, 90(1), 152-160 (2012-01-17)
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE
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