Usherin, Polyclonal Antibody

dJ1111A8.1; US1; USH1A; Usher syndrome type Ia protein; Usher syndrome type-1A protein; Usherin antibody

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Affinity Purified Immunoglobulins

0.72 mg/ml IgG in antibody stabilization buffer (lot specific)

store at -20°C for long term storage

Small volumes of anti-USH2A antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Usherin isoform A Antibody C-epitope

Usher syndrome , an autosomal recessive heterogeneous disorder, is the most common cause of deafness and blindness in *****s 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.

Primary Antibodies; Neuroscience; Sensory Systems; Vision; Usherin Antibody

Confocal Microscopy (CM), ELISA (EIA), Immunocytochemistry (ICC), Immunofluorescence (IF), Immunohistochemistry (IHC), Immunoprecipitation (IP), Western Blot (WB)

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

usherin

usherin

Usherin

USH2A_HUMAN

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]

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: Motility/polarity/chemotaxis; Membrane protein, integral; Cell adhesion

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

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