Testing Data
(Sample (30 ug of whole cell lysate) A: NT2D1 5% SDS PAGE Primary antibody diluted at 1: 1000)
Rabbit anti-Human Jouberin Polyclonal Antibody | anti-AHI1 antibody
Jouberin antibody
Testing Data
(Sample (30 ug of whole cell lysate) A: NT2D1 5% SDS PAGE Primary antibody diluted at 1: 1000)
Testing Data
(Sample (30 ug of whole cell lysate) A: NT2D1 5% SDS PAGE Primary antibody diluted at 1: 1000)
NCBI and Uniprot Product Information
NCBI Description
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Uniprot Description
AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutations of the AHI-1 gene are associated with Joubert syndrome. Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described.
Protein type: Adaptor/scaffold
Chromosomal Location of Human Ortholog: 6q23.3
Cellular Component: centriole; centrosome; adherens junction; photoreceptor outer segment; nonmotile primary cilium; intercellular junction; cilium
Molecular Function: identical protein binding; protein binding
Biological Process: vesicle-mediated transport; positive regulation of polarized epithelial cell differentiation; central nervous system development; protein localization in organelle; vesicle targeting; positive regulation of receptor internalization; specification of axis polarity; cilium biogenesis; positive regulation of transcription from RNA polymerase II promoter; heart looping; transmembrane receptor protein tyrosine kinase signaling pathway; morphogenesis of a polarized epithelium; negative regulation of apoptosis; regulation of behavior; hindbrain development
Disease: Joubert Syndrome 3
Research Articles on AHI1
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Product Notes
The AHI1 ahi1 (Catalog #AAA9408895) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Jouberin antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's Jouberin can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Western blotting: 1:500-1:3000. Researchers should empirically determine the suitability of the AHI1 ahi1 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 "Jouberin, 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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