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USH1C elisa kit :: Human Usher syndrome 1C (autosomal recessive, severe) ELISA Kit

Scan QR to view Datasheet Catalog #    MBS9318346 USH1C elisa kit
Unit / Price
48-Strip-Wells  /  $435 +1 FREE 8GB USB
96-Strip-Wells  /  $600 +1 FREE 8GB USB
5x96-Strip-Wells  /  $2,650 +3 FREE 8GB USB
10x96-Strip-Wells  /  $5,205 +6 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

Usher syndrome 1C (autosomal recessive, severe) (USH1C), ELISA Kit

 Also Known As   

Human Harmonin, USH1C ELISA Kit

 Product Synonym Names    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)
 Product Gene Name   

USH1C elisa kit

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Request for Current Manual Insert    Request Current Manual
 OMIM    605242
 3D Structure    ModBase 3D Structure for Q9Y6N9
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 Species Reactivity    Human
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 Preparation and Storage    Store all reagents at 2-8 degree C
 Product Note    Our ELISA assays are dynamic research tools and sometimes they may be updated and improved. If the format of this assay is important to you then please request the current manual or contact our technical support team with a presales inquiry before placing an order. We will confirm the current details of the assay. We cannot guarantee the sample manual posted online is the most current manual.
 Other Notes    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.
 Searchable Terms for USH1C purchase    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(%).
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NCBI/Uniprot data below describe general gene information for USH1C. It may not necessarily be applicable to this product.
 NCBI GI #    71480164
 NCBI GeneID    10083
 NCBI Accession #    NP_005700.2 [Other Products]
 NCBI GenBank Nucleotide #    NM_005709.3 [Other Products]
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 UniProt Primary Accession #    Q9Y6N9 [Other Products]
 UniProt Secondary Accession #    Q7RTU8; Q96B29; Q9UM04; Q9UM17; Q9UPC3; A8K423 [Other Products]
 UniProt Related Accession #    Q9Y6N9 [Other Products]
 Molecular Weight    62,211 Da
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 NCBI Official Full Name    harmonin isoform a
 NCBI Official Synonym Full Names    Usher syndrome 1C (autosomal recessive, severe)
 NCBI Official Symbol    USH1C [Similar Products]
 NCBI Official Synonym Symbols   
PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
[Similar Products]
 NCBI Protein Information    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
 UniProt Protein Name    Harmonin
 UniProt Synonym Protein Names   
Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; Usher syndrome type-1C protein
 Protein Family    Harmonin
 UniProt Gene Name    USH1C [Similar Products]
 UniProt Synonym Gene Names    AIE75 [Similar Products]
 UniProt Entry Name    USH1C_HUMAN
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 NCBI Summary for USH1C    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]
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 UniProt Comments for USH1C    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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 Research Articles on USH1C    1. This is the first report of a mutation in a known USH1 gene that causes late onset rather than congenital sensorineural hearing loss.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Products associated with USH1C elisa kitDiseases associated with USH1C elisa kit
 Reference Product  PubMed Publications
 CDH23 elisa kit  >40 publications with USH1C and CDH23
 MYO7A elisa kit  >25 publications with USH1C and MYO7A
 USH1G elisa kit  >19 publications with USH1C and USH1G
 ANKS4B elisa kit  >1 publications with USH1C and ANKS4B
 Disease Name  Pubmed Publications
 Syndrome Antibodies  >82 publications with USH1C and Syndrome
 Glucose Metabolism Disorders Antibodies  >3 publications with USH1C and Glucose Metabolism Disorders
 Gastrointestinal Neoplasms Antibodies  >3 publications with USH1C and Gastrointestinal Neoplasms
 Colorectal Neoplasms Antibodies  >3 publications with USH1C and Colorectal Neoplasms
 Diarrhea Antibodies  >2 publications with USH1C and Diarrhea
 Carcinoma Antibodies  >2 publications with USH1C and Carcinoma
 DEAFNESS, AUTOSOMAL RECESSIVE 18 Antibodies  >2 publications with USH1C and DEAFNESS, AUTOSOMAL RECESSIVE 18
 Nervous System Neoplasms Antibodies  >1 publications with USH1C and Nervous System Neoplasms
 Usher syndrome, type 1C Antibodies  >1 publications with USH1C and Usher syndrome, type 1C
Organs/Tissues associated with USH1C elisa kit
 Organ/Tissue Name  Pubmed Publications
 Eye Antibodies  >25 publications with USH1C and Eye
 Brain Antibodies  >4 publications with USH1C and Brain
 Kidney Antibodies  >3 publications with USH1C and Kidney
 Intestine Antibodies  >3 publications with USH1C and Intestine
 Blood Antibodies  >2 publications with USH1C and Blood
 Bladder Antibodies  >1 publications with USH1C and Bladder
 Testis Antibodies  >1 publications with USH1C and Testis
 Pancreas Antibodies  >1 publications with USH1C and Pancreas
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