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Updated Date: Stock Protein updated on 20171018
Research areas: Neuroscience
Target / Protein: USH1C
Biologically active: Not Tested
Expression system: E.coli
Species of origin: Homo sapiens (Human)
Delivery time: 3-7 business days
Uniprot ID: Q9Y6N9
AA Sequence: MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
Tag info: N-terminal 6xHis-SUMO-tagged
Expression Region: 1-533aa
Protein length: Full Length of Isoform 4
MW: 76.3 kDa
Alternative Name(s): Antigen NY-CO-38/NY-CO-37Autoimmune enteropathy-related antigen AIE-75Protein PDZ-73Renal carcinoma antigen NY-REN-3Usher syndrome type-1C protein
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 .
Reference: Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC.Ahmed Z.M., Smith T.N., Riazuddin S., Makishima T., Ghosh M., Bokhari S., Menon P.S., Deshmukh D., Griffith A.J., Riazuddin S., Friedman T.B., Wilcox E.R.Hum. Genet. 110:527-531(2002)
Purity: Greater than 90% as determined by SDS-PAGE.
Storage: The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20℃/-80℃. The shelf life of lyophilized form is 12 months at -20℃/-80℃.
Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.