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Mouse Anti-WHRN Recombinant Antibody (1D9) (CBMAB-A2194-LY)

The product is antibody recognizes DFNB31. The antibody 1D9 immunoassay techniques such as: WB, ELISA.
See all WHRN antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1D9
Antibody Isotype
IgG2b, κ
Application
WB, ELISA

Basic Information

Immunogen
DFNB31 (NP_056219, 808 a.a. ~ 907 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG2b, κ
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
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
Whirlin
Introduction
In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS) (Yap et al., 2003 [PubMed 12641734]). Mutations in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM
Entrez Gene ID
25861
UniProt ID
Q9P202
Alternative Names
CIP98; DKFZp434N014; KIAA1526; RP11-9M16.1; USH2D; WHRN; WI
Function
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
Biological Process
Biological Process auditory receptor cell stereocilium organization Source:GO_Central1 Publication
Biological Process cerebellar Purkinje cell layer formation Source:Ensembl
Biological Process detection of mechanical stimulus involved in sensory perception of sound Source:UniProtKB
Biological Process establishment of localization in cell Source:Ensembl
Biological Process establishment of protein localization Source:UniProtKB
Biological Process inner ear receptor cell differentiation Source:ComplexPortal1 Publication
Biological Process inner ear receptor cell stereocilium organization Source:UniProtKB
Biological Process paranodal junction maintenance Source:Ensembl
Biological Process positive regulation of gene expression Source:Ensembl
Biological Process retina homeostasis Source:HGNC-UCL1 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
Cell projection, stereocilium
Cell projection, growth cone
Photoreceptor inner segment
Synapse
Detected at the level of stereocilia in inner and outer hair cells of the cochlea and vestibule. Localizes to both tip and ankle-link stereocilia regions. Colocalizes with the growing ends of actin filaments. Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment that surrounds the connecting cilia called periciliary membrane complex.
Involvement in disease
Deafness, autosomal recessive, 31 (DFNB31):
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.
Usher syndrome 2D (USH2D):
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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
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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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