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Mouse Anti-USH1C (aa 424-533) Recombinant Antibody (2B3) (CBMAB-U0047-CQ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
2B3
Antibody Isotype
IgG2a, к
Application
ELISA, IP, WB

Basic Information

Immunogen
USH1C (AA 424-533) partial recombinant protein with GST tag
Specificity
Human
Antibody Isotype
IgG2a, к
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, pH 7.4
Preservative
None
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 424-533

Target

Full Name
Usher syndrome 1C (autosomal recessive, severe)
Introduction
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. 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 development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).
Entrez Gene ID
10083
UniProt ID
Q9Y6N9
Alternative Names
PDZ73; AIE-75; DFNB18; PDZ-45; PDZ-73; PDZD7C; DFNB18A; NY-CO-37; NY-CO-38; ush1cpst; PDZ-73/NY-CO-38
Function
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 development and maintenance of cochlear hair cell bundles (By similarity).
As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).
Biological Process
Biological Process actin filament bundle assembly Source:BHF-UCL
Biological Process brush border assembly Source:UniProtKB1 Publication
Biological Process equilibrioception Source:HGNC-UCL1 Publication
Biological Process G2/M transition of mitotic cell cycle Source:HGNC-UCL1 Publication
Biological Process inner ear auditory receptor cell differentiation Source:BHF-UCL
Biological Process inner ear morphogenesis Source:BHF-UCL
Biological Process inner ear receptor cell stereocilium organization Source:BHF-UCL
Biological Process parallel actin filament bundle assembly Source:BHF-UCL
Biological Process photoreceptor cell maintenance Source:HGNC-UCL1 Publication
Biological Process protein localization to microvillus Source:UniProtKB2 Publications
Biological Process protein-containing complex assembly Source:UniProtKB1 Publication
Biological Process regulation of microvillus length Source:UniProtKB
Biological Process retinal cone cell development Source:GO_Central1 Publication
Biological Process sensory perception of light stimulus Source:HGNC-UCL1 Publication
Biological Process sensory perception of sound Source:HGNC-UCL1 Publication
Cellular Location
Cytoplasm, cytosol
Cytoplasm, cytoskeleton
Cell projection, microvillus
Colocalizes with F-actin (By similarity).
Detected at the tip of cochlear hair cell stereocilia (By similarity).
Enriched in microvilli of the intestinal brush border (PubMed:24725409).
Involvement in disease
Usher syndrome 1C (USH1C):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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.
Deafness, autosomal recessive, 18A (DFNB18A):
A form of non-syndromic 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.
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For research use only. Not intended for any clinical use.

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