| Product Name |
Recombinant Human Harmonin (USH1C) Protein |
| Product Overview |
This recombinant human Harmonin (USH1C) protein includes amino acids 1-533aa of the target gene is expressed in E.coli.The protein is supplied in lyophilized form and formulated in phosphate buffered saline (pH7.4) containing 0.01% sarcosyl, 5% trehaloseprior to lyophilization. |
| Target Uniprot Id |
Q9Y6N9 |
| Recommended Name |
Harmonin |
| Gene Name |
USH1C |
| Synonyms |
USH1C, AIE-75, DFNB18, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38. |
| Species |
Human |
| Predicted Molecular Mass |
64.6 kDa |
| Expression System |
E.coli |
| Expression Range |
1-533aa |
| Purity |
>85% |
| Formulation |
Lyophilized |
| Buffer |
Phosphate buffered saline (pH7.4) containing 0.01% sarcosyl, 5%Trehalose |
| Storage Condition |
1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C. |
| Reconstitution Instruction |
Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%. |
| Applications |
Positive Control; Immunogen; SDS-PAGE; WB |
| Research Area |
Neuroscience |
| Target Function |
Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips. |
| Subcellular Location |
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus. |
| Associated Diseases |
Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A) |
| Tissue Specificity |
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. |
