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DFNB31 Antibody (Center) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9P202 |
|---|---|
| Clone Names | 80722041 |
| Gene ID | 25861 |
|---|---|
| Other Names | Whirlin, Autosomal recessive deafness type 31 protein, DFNB31, KIAA1526, WHRN |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. 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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Background
This gene is thought to function in the organization andstabilization of sterocilia elongation and actin cystoskeletalassembly, based on studies of the related mouse gene. Mutations inthis gene have been associated with autosomal recessivenon-syndromic deafness and Usher Syndrome. Alternative splicing ofthis gene results in multiple transcript variants encodingdifferent 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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