DFNB31 blocking peptide
DFNB31 Antibody (Center) Blocking peptide
NCBI and Uniprot Product Information
NCBI Description
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.[provided by RefSeq, Mar 2010]
Uniprot Description
WHRN: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Defects in WHRN are the cause of deafness autosomal recessive type 31 (DFNB31). DFNB31 is a form of 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. Defects in WHRN are the cause of Usher syndrome type 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. 4 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 9q32
Cellular Component: cytoplasm; stereocilium
Molecular Function: protein binding
Biological Process: inner ear receptor stereocilium organization and biogenesis; retinal homeostasis; sensory perception of light stimulus; sensory perception of sound
Disease: Deafness, Autosomal Recessive 31; Usher Syndrome, Type Iid
Research Articles on DFNB31
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Product Notes
The DFNB31 dfnb31 (Catalog #AAA9218146) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "DFNB31, Blocking Peptide" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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