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Mouse Anti-USH1G Recombinant Antibody (CBXU-152) (CBMAB-U0221-CQ)

This product is a mouse antibody that recognizes USH1G. The antibody CBXU-152 can be used for immunoassay techniques such as: WB, IP, IF, ELISA.
See all USH1G antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXU-152
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human
Antibody Isotype
IgG
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
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
USH1 Protein Network Component Sans
Introduction
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Diseases associated with USH1G include Usher Syndrome, Type Ig and Usher Syndrome, Type I. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and spectrin binding.
Entrez Gene ID
124590
UniProt ID
Q495M9
Alternative Names
SANS; ANKS4A
Function
Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs (PubMed:34023904).
May also participate in recycling of snRNPs back to Cajal bodies during splicing (PubMed:34023904).
Plays a role in regulating MAGI2-mediated endocytosis (PubMed:24608321).
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. Required for normal hearing.
Biological Process
Biological Process equilibrioception Source:HGNC-UCL1 Publication
Biological Process inner ear morphogenesis Source:Ensembl
Biological Process inner ear receptor cell stereocilium organization Source:Ensembl
Biological Process photoreceptor cell maintenance Source:HGNC-UCL1 Publication
Biological Process regulation of clathrin-dependent endocytosis Source:UniProtKB1 Publication
Biological Process sensory perception of light stimulus Source:HGNC-UCL1 Publication
Biological Process sensory perception of sound Source:HGNC-UCL2 Publications
Cellular Location
Cytoplasm, cytosol
Cytoplasm, cytoskeleton
Cell membrane
Cell projection, cilium
Nucleus speckle
Nucleus, Cajal body
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Photoreceptor inner segment
Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15 (By similarity).
In photoreceptor cilia, detected predominantly at the cilium base (By similarity).
Expressed in the pericentriolar region of the centrosome (By similarity).
Involvement in disease
Usher syndrome 1G (USH1G):
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.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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