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DFNB31 Antibody (Center)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Application 
| WB, IHC-P, E |
|---|---|
| Primary Accession | Q9P202 |
| Other Accession | NP_056219.3, NP_001077354.2 |
| Reactivity | Human |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 96558 Da |
| Antigen Region | 378-406 aa |
| Gene ID | 25861 |
|---|---|
| Other Names | Whirlin, Autosomal recessive deafness type 31 protein, DFNB31, KIAA1526, WHRN |
| Target/Specificity | This DFNB31 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 378-406 amino acids from the Central region of human DFNB31. |
| Dilution | WB~~1:1000 IHC-P~~1:10~50 |
| Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
| Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Precautions | DFNB31 Antibody (Center) is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | WHRN (HGNC:16361) |
|---|---|
| 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. |
| Cellular Location | Cytoplasm {ECO:0000250|UniProtKB:Q80VW5}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q80VW5}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q80VW5}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q80VW5}. Synapse {ECO:0000250|UniProtKB:Q810W9}. Note=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. {ECO:0000250|UniProtKB:Q80VW5, ECO:0000250|UniProtKB:Q810W9, ECO:0000269|PubMed:17584769} |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.
References
Letra, A., et al. Am. J. Med. Genet. A 152A (7), 1701-1710 (2010) :
Secolin, R., et al. Psychiatr. Genet. 20(3):126-129(2010)
Aller, E., et al. Mol. Vis. 16, 495-500 (2010) :
Toiyama, Y., et al. Int. J. Oncol. 35(4):709-715(2009)
Gosens, I., et al. Hum. Mol. Genet. 16(16):1993-2003(2007)
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