USH1C Protein (His tag)

Catalog No. ABIN7317817

Product Details

Target: USH1C (Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C))

Protein Type: Recombinant

Origin: Human

Source: Escherichia coli (E. coli)

Purification tag / Conjugate: This USH1C protein is labelled with His tag.

Purpose: Recombinant Human USH1C/Harmonin Protein (His Tag)

Sequence: Met 1-Phe 552

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

Purity: > 92 % as determined by reducing SDS-PAGE.

Application Details

Restrictions: For Research Use only

Handling

Format: Lyophilized

Reconstitution: Please refer to the printed manual for detailed information.

Buffer: Lyophilized from sterile 50 mM Tris, 20 % glycerol, pH 7.7

Storage: 4 °C,-20 °C,-80 °C

Storage Comment: Generally, lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.

Target Details

Target: USH1C (Usher Syndrome 1C (Autosomal Recessive, Severe) (USH1C))

Alternative Name: USH1C/Harmonin (USH1C Products)

Synonyms: AIE-75 Protein, DFNB18 Protein, DFNB18A Protein, NY-CO-37 Protein, NY-CO-38 Protein, PDZ-45 Protein, PDZ-73 Protein, PDZ-73/NY-CO-38 Protein, PDZ73 Protein, PDZD7C Protein, ush1cpst Protein, 2010016F01Rik Protein, harmonin Protein, zgc:136806 Protein, ush1c Protein, USH1 protein network component harmonin Protein, harmonin Protein, Usher syndrome 1C Protein, USH1 protein network component harmonin L homeolog Protein, USH1C Protein, CpipJ_CPIJ012732 Protein, Ush1c Protein, ush1c Protein, ush1c.L Protein

Background:

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 which 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.

Synonym: AIE-75;DFNB18;DFNB18A;NY-CO-37;NY-CO-38;PDZ-45;PDZ-73;PDZ-73/NY-CO-38;PDZ73;PDZD7C;ush1cpst

Molecular Weight: 63.7 kDa

Pathways: Sensory Perception of Sound