USH1C / Harmonin (1-533, His-Tag) Human Protein
Specifications
| Product Data | |
| Species | Human |
|---|---|
| Expression Host | E. coli |
| Expression cDNA Clone or AA Sequence | |
| Tag | His-Tag |
| Predicted MW | 64.6 kDa (570aa) |
| Concentration | 1mg/ml (determined by Bradford assay) |
| Purity | > 95% by SDS-PAGE |
| Presentation State | Purified |
| Buffer | Liquid in. 20mM Tris-HCl buffer (pH 8.0) containing 20% glycerol |
| Preparation | Liquid purified protein |
| Recommended Dilution | SDS-PAGE |
| Protein Description | Recombinant human Harmonin protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography. |
| Storage | Can be stored at +2°C to +8°C for 1 week. For long term storage, aliquot and store at -20°C to -80C. Avoid repeated freezing and thawing cycles. |
| Stability | Shelf life: one year from despatch. |
| Shipping | Blue Ice |
| Reference Data | |
| RefSeq | AAH16057 |
| Locus ID | 10083 |
| UniProt ID | Q9Y6N9 |
| Cytogenetics | 11p15.1 |
| Synonyms | AIE 75, Autoimmune enteropathy related antigen AIE 75, Deafness autosomal recessive 18, DFNB 18, Harmonin, NY CO 37, NY CO 38, PDZ 45, PDZ 73, Renal carcinoma antigen NY REN 3, USH 1C, Ush1cpst, Usher syndrome 1C (autosomal recessive severe), Usher syndrome type 1C protein |
| Summary | This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. provided by RefSeq, Mar 2009 |
| Protein Categories | Intracellular Proteins, Nervous system Diseases |
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