Overview

Description

  • NatureSynthetic
  • Amino Acid Sequence
    • SpeciesHuman
    • SequenceDRKVAREFRHKVD-C
    • Amino acids2 to 14

Associated products

Specifications

Our Abpromise guarantee covers the use of ab45568 in the following tested applications.

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

  • Applications

    Blocking - Blocking peptide for Anti-USH1C antibody (ab19045)

  • FormLiquid
  • 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.

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
  • FunctionMay be involved in protein-protein interaction.
  • Tissue specificityExpressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
  • Involvement in diseaseDefects 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 similaritiesContains 3 PDZ (DHR) domains.
  • DomainThe PDZ domain 1 mediates interactions with USH1G/SANS and SLC4A7.
  • Information by UniProt

References for Human USH1C peptide (ab45568)

ab45568 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab45568.
Please use the links above to contact us or submit feedback about this product.

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