Human Usher syndrome 1C (autosomal recessive, severe) ELISA Kit | USH1C elisa kit
Human Harmonin, USH1C ELISA Kit
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: 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
Research Articles on USH1C
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Product Notes
The Human USH1C ush1c (Catalog #AAA9318346) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9318346 ELISA Kit recognizes Human USH1C. It is sometimes possible for the material contained within the vial of "Usher syndrome 1C (autosomal recessive, severe), ELISA Kit" 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
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