Analytical Data
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Gene name
USH1C
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简介
USH1C is an anchoring and scaffolding protein critical for cochlear hair cell mechanotransduction. It forms a network with USH1G, CDH23 and MYO7A and contributes to the development and maintenance of hair cell bundles. USH1C Protein, Human (His-SUMO) is the recombinant human-derived USH1C protein, expressed by E. coli , with N-His, N-SUMO labeled tag.
- Application
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Alternative Names
AIE 75; AIE75; Antigen NY CO 38/NY CO 37; Deafness autosomal recessive 18; DFNB 18; DFNB18
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Species
Human
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Source
E. coli
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Tag
N-His;N-SUMO
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Purity
Greater than 90% as determined by SDS-PAGE.
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Uniprot
Q9Y6N9-4
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Expression Region
M1-F533
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AA Sequence
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
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Protein Length
Full Length of Isoform-4
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Endotoxin
< 1.0 EU per μg protein as determined by the LAL method.
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Form
Freeze-dried powder
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Buffer formulation
PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300.
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Reconstitution
Reconstitute in ddH2O to a concentration of 0.1-0.5 mg/mL. Do not vortex.
- Customization
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Stability Test
The thermal stability is described by the loss rate. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37℃ for 48h, and no obvious degradation and precipitation were observed. The loss rate isless than 8% within the expiration date under appropriate storage condition.
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Storage & Shelf Life
Samples are stable for up to twelve months from date of receipt at -20℃ to -80℃. Store it under sterile conditions at -20℃ to -80℃. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.
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Shipping
In general, recombinant proteins are supplied as lyophilized powder and shipped at ambient temperature. For bulk packages, the proteins are provided as frozen liquid and shipped with blue ice, unless otherwise requested by the customer.
Quality inspection process
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Protein Description
USH1C, a gene linked to Usher syndrome type 1C, encodes a protein that plays a critical role in the development and function of sensory cells in the inner ear and retina. Usher syndrome, characterized by hearing loss and progressive vision impairment, is a genetic disorder that affects both auditory and visual pathways. Mutations in the USH1C gene disrupt the normal function of the protein, leading to the degeneration of hair cells in the cochlea and photoreceptor cells in the retina. This impairs the sensory processes that are vital for hearing and sight. Research into USH1C and its protein product is essential for understanding the underlying mechanisms of Usher syndrome and for developing potential gene therapies or pharmacological interventions. Recent advances in recombinant protein technology have enabled researchers to produce and characterize USH1C proteins, offering valuable insights into their structure, function, and interactions with other cellular components. These studies not only enhance our understanding of the molecular pathology of Usher syndrome but also pave the way for innovative therapeutic strategies aimed at restoring sensory function in affected individuals. Continued exploration of USH1C protein dynamics and its role in sensory cell integrity remains a vital area of biomedical research, holding promise for future treatment options for those with Usher syndrome.
