Recombinant人USH1C protein (ab86697)

概述

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • 种属Human
    • 序列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
    • 氨基酸1 to 533

技术指标

Our Abpromise guarantee covers the use of ab86697 in the following tested applications.

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

  • 应用

    SDS-PAGE

  • 纯度> 95 % SDS-PAGE.
    ab86697 is purified using conventional chromatography techniques.
  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    Preservative: None
    Constituents: 20% Glycerol, 20mM Tris HCl, pH 8.0

常规信息

  • 别名
    • 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
  • 功能May be involved in protein-protein interaction.
  • 组织特异性Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
  • 疾病相关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.
  • 序列相似性Contains 3 PDZ (DHR) domains.
  • 结构域The PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.
  • Information by UniProt

Recombinant Human USH1C protein 图像

  • 15% SDS-PAGE showing ab86697 at approximately 64.6kDa (3µg).

Recombinant Human USH1C protein (ab86697)参考文献

ab86697 has not yet been referenced specifically in any publications.

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