Harmonin (USH1C), human, recombinant

Organism: Homo sapiens (Human). Source: E.coli. Expression Region: 1-533aa. Protein Length: Full Length of Isoform 4. Tag Info: N-terminal 6xHis-SUMO-tagged. Target Protein Sequence: MDRKVAREFR HKVDFLIEND AEKDYLYDVL RMYHQTMDVA VLVGDLKLVI NEPSRLPLFD AIRPLIPLKH QVEYDQLTPR RSRKLKEVRL DRLHPEGLGL SVRGGLEFGC GLFISHLIKG GQADSVGLQV GDEIVRINGY SISSCTHEEV INLIRTKKTV SIKVRHIGLI PVKSSPDEPL TWQYVDQFVS ESGGVRGSLG SPGNRENKEK KVFISLVGSR GLGCSISSGP IQKPGIFISH VKPGSLSAEV GLEIGDQIVE VNGVDFSNLD HKEGRELFMT DRERLAEARQ RELQRQELLM QKRLAMESNK ILQEQQEMER QRRKEIAQKA AEENERYRKE MEQIVEEEEK FKKQWEEDWG SKEQLLLPKT ITAEVHPVPL RKPKYDQGVE PELEPADDLD GGTEEQGEQD FRKYEEGFDP YSMFTPEQIM GKDVRLLRIK KEGSLDLALE GGVDSPIGKV VVSAVYERGA AERHGGIVKG DEIMAINGKI VTDYTLAEAE AALQKAWNQG GDWIDLVVAV CPPKEYDDEL TFF. Purity: Greater than 90% as determined by SDS-PAGE. Endotoxin: Not test. Biological Activity: n/a. Form: Liquid or Lyophilized powder. Buffer: If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0. Reconstitution: We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20 °C/-80 °C. Our default final concentration of glycerol is 50%. Customers could use it as reference. 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 °C/-80 °C. The shelf life of lyophilized form is 12 months at -20 °C/-80 °C. Notes: Repeated freezing and thawing is not recommended. Store working aliquots at 4 °C for up to one week. 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). 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 (By similarity). 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