antibody

Usherin Antibody BIOTIN-Conjugated

MBS5400214

0.1 mg

495 USD

polyclonal

rabbit

biotin

human, mouse, rat

immunoprecipitation, enzyme immunoassay

Antibody

Usherin Antibody BIOTIN-Conjugated

[Usherin]

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

[usherin isoform A; Usherin; usherin; usherin; Usher syndrome type IIa protein; Usher syndrome type-2A protein]

[USH2A; USH2A; US2; RP39; USH2; dJ1111A8.1]

USH2A_HUMAN

Polyclonal

Rabbit

Human, Monkey, Mouse, Rat

1546

This antibody will detect both Usherin isoform A and Usherin isoform B.

Antigen Affinity Purified

FITC-Conjugated Immunoglobulins

0.75 mg/ml IgG in antibody stabilization buffer

Store at -20°C for long term storage.

Verified - 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

Immunogen: Synthetic peptide taken within amino acid region 150-180 on Usher Type 2A protein

Usher syndrome, an autosomal recessive heterogeneous disorder, is the most common cause of deafness and blindness in adults and affects 3-6% children born with hearing impairment. The affected individuals have sensoryneural deficiencies at birth and subsequently develop progressive retinitis pigmentosa (RP). Three forms of Usher syndrome have been characterized; Usher Type l, ll and lll which can be distinguished based on severity of hearing loss and vestibular involvement. Type I patients are profoundly deaf while type ll (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 24 gene expresses an extra cellular matrix protein that resembles 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 153kDa) 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 153kDa (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 unique 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.

219842259

NP_009054.5

NM_007123.5

O75445

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

0.1 mg

495 USD