Recombinant Human DFNB31 protein (ab161814)

Overview

  • Product name
    Recombinant Human DFNB31 protein
  • Protein length
    Protein fragment

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      GLLEPTSTLVRVKKSAATLGIAIEGGANTRQPLPRIVTIQRGGSAHNCGQ LKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLVTEFNVML
    • Amino acids
      808 to 907
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab161814 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 1110035G07Rik
    • Autosomal recessive deafness type 31 protein
    • CASK interacting protein CIP98
    • CIP 98
    • CIP98
    • Deafness autosomal recessive 31
    • DFNB 31
    • DKFZp434N014
    • KIAA1526
    • RP11 9M16.1
    • USH 2D
    • USH2D
    • Whirlin
    • WHRN
    • WHRN_HUMAN
    • WI
    see all
  • Function
    Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
  • Involvement in disease
    Defects in WHRN are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. 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) [MIM:611383]. 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.
  • Sequence similarities
    Contains 3 PDZ (DHR) domains.
  • Cellular localization
    Cytoplasm. Cell projection > stereocilium. Cell projection > growth cone. Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Co-localizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium.
  • Information by UniProt

Images

  • ab161814 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab161814 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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