Rabbit anti-Human PRICKLE1 Polyclonal Antibody | anti-PRICKLE1 antibody
PRICKLE1 Antibody (C-term)
negative regulator of the Wnt/beta-catenin signaling pathway. The
encoded protein localizes to the nuclear membrane and has been
implicated in the nuclear trafficking of the transcription
repressors REST/NRSF and REST4. Mutations in this gene have been
linked to progressive myoclonus epilepsy. Alternate splicing
results in multiple transcript variants. A pseudogene of this gene
is found on chromosome 3.
Wheeler, H.E., et al. PLoS Genet. 5 (10), E1000685 (2009) :
Perry, J.R., et al. Diabetes 58(6):1463-1467(2009)
Narimatsu, M., et al. Cell 137(2):295-307(2009)
Shimojo, M. J. Biol. Chem. 283(50):34880-34886(2008)
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]
Uniprot Description
PRICKLE1: Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalate between neighboring cells, leading to convergence toward the mediolateral axis and extension along the anteroposterior axis. Necessary for nuclear localization of REST. May serve as nuclear receptor. Defects in PRICKLE1 are the cause of progressive myoclonic epilepsy type 1B (EPM1B). EPM1B is an autosomal recessive disorder characterized by myoclonus that progresses in severity over time, tonic-clonic seizures and ataxia. Defects in PRICKLE1 may be a cause of susceptibility to neural tube defects (NTD). Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components. Belongs to the prickle / espinas / testin family.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 12q12
Cellular Component: nuclear membrane; nucleus; cytosol
Molecular Function: protein binding; zinc ion binding
Biological Process: positive regulation of protein ubiquitination; protein import into nucleus; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; neural tube closure; negative regulation of transcription, DNA-dependent
Disease: Epilepsy, Progressive Myoclonic 1b
Research Articles on PRICKLE1
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Product Notes
The PRICKLE1 prickle1 (Catalog #AAA9206141) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 678-704. The PRICKLE1 Antibody (C-term) reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's PRICKLE1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), ELISA (EIA). WB~~1:1000. Researchers should empirically determine the suitability of the PRICKLE1 prickle1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "PRICKLE1, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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