Usher syndrome 1C (autosomal recessive, severe), ELISA Kit

Human Harmonin (USH1C) ELISA kit; AIE-75; DFNB18; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; ush1cpst; harmonin; Usher syndrome 1C (autosomal recessive; severe)

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 USH1C 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.

MBS9318346 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Usher syndrome 1C (autosomal recessive, severe) (USH1C) 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 USH1C. The ELISA analytical biochemical technique of the MBS9318346 kit is based on USH1C antibody-USH1C antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect USH1C antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, USH1C. 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(%).

62,211 Da

Usher syndrome 1C (autosomal recessive, severe)

harmonin; antigen NY-CO-38/NY-CO-37; usher syndrome type-1C protein; renal carcinoma antigen NY-REN-3; autoimmune enteropathy-related antigen AIE-75

Harmonin

AIE75  [Similar Products]

USH1C_HUMAN

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

USH1C: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C); also known as Usher syndrome type I Acadian variety. 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18). DFNB18 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 11p14.3

Cellular Component: stereocilium; photoreceptor outer segment; cytoskeleton; photoreceptor inner segment; apical part of cell; cytoplasm; plasma membrane; synapse; cytosol; brush border

Molecular Function: actin filament binding; protein binding; myosin tail binding; spectrin binding

Biological Process: parallel actin filament bundle formation; inner ear morphogenesis; sensory perception of sound; sensory perception of light stimulus; photoreceptor cell maintenance; auditory receptor cell differentiation; G2/M transition of mitotic cell cycle; equilibrioception

Disease: Usher Syndrome, Type Ic; Usher Syndrome, Type I; Deafness, Autosomal Recessive 18a

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