Harmonin/USH1C Protein, Human, Recombinant (His Tag)

• Background:

  Harmonin, also known as Antigen NY-CO-38 / NY-CO-37, Autoimmune enteropathy-related antigen AIE-75, Protein PDZ-73, Renal carcinoma antigen NY-REN-3, Usher syndrome type-1C protein and USH1C, is a protein that is expressed in small intestine, colon, kidney, eye and weakly in pancreas. USH1C is expressed also in vestibule of the inner ear. USH1C contains 3 PDZ (DHR) domains. USH1C may be involved in protein-protein interaction. Defects in USH1C are the cause of Usher syndrome type 1C (USH1C), 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) . Defects in USH1C are also the cause of deafness autosomal recessive type 18 (DFNB18) which 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.

• Synonyms:

  AIE-75 Protein, Human; DFNB18 Protein, Human; DFNB18A Protein, Human; NY-CO-37 Protein, Human; NY-CO-38 Protein, Human; PDZ-45 Protein, Human; PDZ-73 Protein, Human; PDZ-73/NY-CO-38 Protein, Human; PDZ73 Protein, Human; PDZD7C Protein, Human; ush1cpst Protein, Human

• Gene Name:

  Usher syndrome 1C (autosomal recessive, severe)

• UniProt:

  Q9Y6N9-1

• Expression System:

  E. coli

• Tag:

  N-His

• Endotoxin:

  Please contact us for more information.

• Purity:

  > 92 % as determined by SDS-PAGE.

• Activity:

  At Leading Biology, the biological activity of a recombinant protein is routinely measured using a bioassay, e.g. chemotaxis or cell proliferation assay, enzyme assay, or a functional ELISA. When a recombinant protein is an enzyme, specific activity is derived from an enzymatic assay. Each enzyme is tested for potency by cleavage of a substrate. We are in the process of updating the biological activity data. If you have any questions regarding this update, please feel free to contact our technical support team.

• Form:

  Lyophilized

• Buffer:

  Lyophilized from sterile 50mM Tris, 20% glycerol, pH 7.7 Please contact us for any concerns or special requirements. Normally 5 % - 8 % trehalose, mannitol and 0.01% Tween 80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.

• Molecular Weight:

  The recombinant human USH1C consisting of 563 amino acids and migrates as an 63.7 kDa band in SDS-PAGE under reducing conditions as predicted.

• Storage Conditions:

  In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid. They are shipped out with blue ice unless customers require otherwise. Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  USH1C

• Species:

  Human

• Overview:

  A DNA sequence encoding the native human USH1C (Q9Y6N9-1) (Met 1-Phe 552) was expressed, with a polyhistide tag at the N-terminus.

• Uniprot URL:

  https://www.uniprot.org/uniprot/Q9Y6N9-1

• AA Sequence:

  Met1-Phe552