DFNB31, Polyclonal Antibody

Anti -DFNB31, ID (WHRN, DFNB31, KIAA1526, Whirlin, Autosomal recessive deafness type 31 protein)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 9; NC_000009.11 (117164360..117267789, complement). Location: 9q32

Polyclonal

IgG

Rabbit

Human

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-DFNB31 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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.

Antibodies; Abs to KIAA, orf

ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)

Suitable for use in Western Blot, Immunohistochemistry, ELISA
Dilution: ELISA: 1:1,000
Western Blot: 1:100-500
Immunohistochemistry: 1:10-50

96,586 Da[Similar Products]

deafness, autosomal recessive 31

whirlin; CASK-interacting protein CIP98; autosomal recessive deafness type 31 protein

Whirlin

KIAA1526; WHRN  [Similar Products]

WHRN_HUMAN

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]

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: stereocilium; growth cone; cytoplasm; actin filament; photoreceptor connecting cilium

Molecular Function: protein binding

Biological Process: retinal homeostasis; inner ear receptor stereocilium organization and biogenesis; sensory perception of sound; sensory perception of light stimulus

Disease: Usher Syndrome, Type Iid; Deafness, Autosomal Recessive 31

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