Overview

  • Product name
    Recombinant Human PDZD7 protein
  • Protein length
    Full length protein

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRL LNGPPRGIRASSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFS VRGGSEHGLGIFVSKVEEGSSAERAGLCVGDKITEVNGLSLESTTMGSAV KVLTSSSRLHMMVRRMGRVPGIKFSKEKTTWVDVVNRRLVVEKCGSTPSD TSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSKVDHGGLAEEN GIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEM VSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDIC LGQEEPGSRGPGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSD GPHPGRRLDSALSESPKTALLLALSRPRPPITRSQSYLTLWEEKQQRKEK SGSPGEKGALQRSKTLMNLFFKGGRQGRLARDGRREAWTLDSGSLAKTYP RLDIEKEMGAT
    • Amino acids
      1 to 511
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab164166 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
    • 9130207N01
    • EG435601
    • OTTMUSP00000044304
    • OTTMUSP00000044305
    • PDZ domain containing 7
    • PDZ domain-containing protein 7
    • PDZD7
    • PDZD7_HUMAN
    • PDZK7
    • RP11-108L7.9
    see all
  • Tissue specificity
    Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium.
  • Involvement in disease
    Note=A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11).
    Defects in PDZD7 are a cause of Usher syndrome type 2C (USH2C) [MIM:605472]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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. Note=PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.
  • Sequence similarities
    Contains 2 PDZ (DHR) domains.
  • Cellular localization
    Cell projection > cilium. Nucleus.
  • Information by UniProt

Images

  • ab164166 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab164166 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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