Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Sequence

      MRGSHHHHHH GMASMTGGQQ MGRDLYDDDD KDRWGSHMDR KVAREFRHKV DFLIENDAEK DYLYDVLRMY HQTMDVAVLV GDLKLVINEP SRLPLFDAIR PLIPLKHQVE YDQLTPRRSR KLKEVRLDRL HPEGLGLSVR GGLEFGCGLF ISHLIKGGQA DSVGLQVGDE IVRINGYSIS SCTHEEVINL IRTKKTVSIK VRHIGLIPVK SSPDEPLTWQ YVDQFVSESG GVRGSLGSPG NRENKEKKVF ISLVGSRGLG CSISSGPIQK PGIFISHVKP GSLSAEVGLE IGDQIVEVNG VDFSNLDHKE GRELFMTDRE RLAEARQREL QRQELLMQKR LAMESNKILQ EQQEMERQRR KEIAQKAAEE NERYRKEMEQ IVEEEEKFKK QWEEDWGSKE QLLLPKTITA EVHPVPLRKP KYDQGVEPEL EPADDLDGGT EEQGEQDFRK YEEGFDPYSM FTPEQIMGKD VRLLRIKKEG SLDLALEGGV DSPIGKVVVS AVYERGAAER HGGIVKGDEI MAINGKIVTD YTLAEADAAL QKAWNQGGDW IDLVVAVCPP KEYDDELTFF
    • Molecular weight

      65 kDa including tags
    • Amino acids

      1 to 533
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab117205 in the following tested applications.

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

  • Applications

    SDS-PAGE

  • Purity

    > 95 % SDS-PAGE.
    ab117205 is purified by proprietary chromatographic techniques. Purity was determined to be greater than 95% as determined by RP-HPLC and SDS-PAGE.
  • Form

    Liquid
  • Additional notes

    USH1C/Harmonin protein although stable 4°C for 4 weeks, should be stored desiccated below -18°C. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA). Avoid freeze-thaw cycles.

     This product was previously labelled as USH1C

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.32% Tris HCl, 20% Glycerol

General Info

  • Alternative names

    • AIE 75
    • AIE75
    • Antigen NY CO 38/NY CO 37
    • Antigen NY-CO-38/NY-CO-37
    • Autoimmune enteropathy related antigen AIE 75
    • Autoimmune enteropathy related antigen AIE75
    • Autoimmune enteropathy-related antigen AIE-75
    • Deafness autosomal recessive 18
    • DFNB 18
    • DFNB18
    • Harmonin
    • NY CO 37
    • NY CO 38
    • PDZ 45
    • PDZ 73
    • PDZ 73 protein
    • PDZ 73/NY CO 38
    • PDZ45
    • PDZ73
    • PDZ73 protein
    • Protein PDZ-73
    • Renal carcinoma antigen NY REN 3
    • Renal carcinoma antigen NY-REN-3
    • USH 1C
    • USH1C
    • USH1C_HUMAN
    • Ush1cpst
    • Usher syndrome 1C
    • Usher syndrome 1C (autosomal recessive severe)
    • Usher syndrome type 1C protein
    • Usher syndrome type-1C protein
    see all
  • Function

    May be involved in protein-protein interaction.
  • Tissue specificity

    Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
  • Involvement in disease

    Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:276904]; also known as Usher syndrome type I Acadian variety. 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). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
    Defects in USH1C are the cause of deafness autosomal recessive type 18 (DFNB18) [MIM:602092]. DFNB18 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.
  • Sequence similarities

    Contains 3 PDZ (DHR) domains.
  • Domain

    The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.
  • Information by UniProt

References

ab117205 has not yet been referenced specifically in any publications.

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