Rabbit Usherin Polyclonal Antibody | anti-USH2A antibody
Usherin Antibody FITC-Conjugated
Dot Blot: 1:4,000
ELISA: 1:4,000
Immunocytochemistry: 1:250
Immunofluorescence: 1:250
Immunohistochemistry: 1:250
Immunoprecipitation: 1:200
Western Blot: 1:500
Usher syndrome , an autosomal recessive heterogeneous disorder, is the most common cause of deafness and blindness in adults and effect 3-6% children born with hearing impairment. The affected individuals have sensory neural deficiencies at birth and subsequently develop progressive retinitis pigmentosa (RP). Three forms of Usher loss and vestibular involvement . Type I patlents are profoundly deaf while type II ( most common form of Usher syndrome ) patients are mildly deaf but have normal vestibular responses. (1). Ush2A gene has been mapped on a 1 mega base pair interval between marker D1S474 and AFM144XF2. The Usher 2A gene expresses an extra cellular matrix protein that ressembles unconventional Myosin and do not appear to have any un-conventional functional correlations. The human Usher Syndrome 2A (Ush2A) protein has 1272 amino acid (Approximate MW 153 kDa) with several functional domains (Laminin type EGF like domain; Laminin-Type epidermal growth factor like domain and fibronectin type 3 like domain.) The protein has a single transmembrane domain that anchor the protein to the cell membrane, the rest of the protein stays outside the cell.
The Ush2A protein is approximately 153 kDa (1272 amino acids ) with multiple conserved domains that is mainly expressed in RPEs. The Anti-Usherin selective antibodies were generated against three regions: N-epitope, Mid Region and C-epitope. These epitope are uique to Usherin protein. The polyclonal antibody strongly labels a 186kDa protein in RPE cell extracts. Anti-Ush2A selective antibodies are also available in affinity purified form for confocal, Western blotting and immunocytochemical analyses. Antibodies can be conjugated with fluorescent probes or secondary enzymes for an extra charge. Western blot positive control in ready-to use SDS sample buffer and antigenic blocking peptides are available.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Uniprot Description
USH2A: Involved in hearing and vision. Defects in USH2A are the cause of Usher syndrome type 2A (USH2A). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Defects in USH2A are the cause of retinitis pigmentosa type 39 (RP39). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP39 inheritance is autosomal recessive. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Cell adhesion; Motility/polarity/chemotaxis; Membrane protein, integral
Chromosomal Location of Human Ortholog: 1q41
Cellular Component: apical plasma membrane; basement membrane; cytoplasm; integral to membrane; photoreceptor connecting cilium; photoreceptor inner segment; stereocilium bundle
Molecular Function: collagen binding; myosin binding; protein binding; protein homodimerization activity
Biological Process: establishment of protein localization; hair cell differentiation; inner ear receptor cell differentiation; maintenance of organ identity; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception
Disease: Retinitis Pigmentosa 39; Usher Syndrome, Type Iia
Research Articles on USH2A
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Product Notes
The USH2A ush2a (Catalog #AAA5400215) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. AAA Biotech's Usherin can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA),Immunoprecipitation (IP). Confocal Microscopy: 1:250 Dot Blot: 1:4,000 ELISA: 1:4,000 Immunocytochemistry: 1:250 Immunofluorescence: 1:250 Immunohistochemistry: 1:250 Immunoprecipitation: 1:200 Western Blot: 1:500. Researchers should empirically determine the suitability of the USH2A ush2a 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 "Usherin, 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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