Harmonin Recombinant Protein | USH1C recombinant protein
Recombinant Human Harmonin
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: 11p15.1
Cellular Component: apical part of cell; brush border; cytoplasm; cytosol; microvillus; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; stereocilium; synapse
Molecular Function: protein binding; spectrin binding
Biological Process: actin filament bundle formation; auditory receptor cell differentiation; cellular protein complex assembly; equilibrioception; G2/M transition of mitotic cell cycle; inner ear morphogenesis; inner ear receptor stereocilium organization and biogenesis; parallel actin filament bundle formation; photoreceptor cell maintenance; regulation of microvillus length; sensory perception of light stimulus; sensory perception of sound
Disease: Deafness, Autosomal Recessive 18a; Usher Syndrome, Type I; Usher Syndrome, Type Ic
Research Articles on USH1C
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Product Notes
The USH1C ush1c (Catalog #AAA9421498) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is Isoform 4, 1-533aa. The Recombinant Human Harmonin reacts with Human and may cross-react with other species as described in the data sheet. It is sometimes possible for the material contained within the vial of "Harmonin, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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