Usherin, ELISA Kit

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

Store all reagents at 2-8 degree C.

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Small volumes of USH2A elisa kit 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.

MBS2607231 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Usherin (USH2A) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing USH2A. The ELISA analytical biochemical technique of the MBS2607231 kit is based on USH2A antibody-USH2A antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect USH2A antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, USH2A. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

578,275 Da

Usher syndrome 2A (autosomal recessive, mild)

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; Cell adhesion; 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

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