Specification
| Organism | Homo sapiens (Human) |
| Expression Host | E.coli |
| Tag Info | N-terminal 6xHis-SUMO-tagged |
| Purity | Greater than 85% by SDS-PAGE |
| Uniprot ID | Q9Y6N9 |
| Gene Names | USH1C |
| Alternative Names | Antigen NY-CO-38/NY-CO-37Autoimmune enteropathy-related antigen AIE-75Protein PDZ-73Renal carcinoma antigen NY-REN-3Usher syndrome type-1C protein |
| Expression Region | Full Length of Isoform 4(1-533aa ) |
| Molecular Weight | 76.3 kDa |
| Protein Sequence | MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF |
| Form | Liquid or Lyophilization |
| Buffer | The default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol if the delivery form is liquid. The lyophilization buffer is Tris/PBS-based buffer, 6% Trehalose, pH 8.0 if the delivery form is lyophilized powder. Please contact us if you have any special requirment. |
| Reconstitution | Please reconstitute protein in deionized sterile water and we recommend that briefly centrifuge thevial prior to opening the vial .We recommend aliquot for long-term storage at -20℃/-80℃. |
Background
| Relevance | Required for normal development and maintenance of cochlear hair cell bundles. 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 hearing . |
| Involvement in Disease | Usher syndrome 1C (USH1C); Deafness, autosomal recessive, 18A (DFNB18A) |
| Subcellular Location | Cytoplasm, cytosol, Cytoplasm, cytoskeleton, Cell projection, microvillus |
| Protein Families | |
| Tissue Specificity | USH1C |
QC Data
| Note | Please contact us for QC Data |
| Product Image (Reference Only) |  |