Cusabio Human Recombinants
Recombinant Human Harmonin (USH1C) | CSB-EP896761HU
- SKU:
- CSB-EP896761HU
- Availability:
- 3 - 7 Working Days
Description
Recombinant Human Harmonin (USH1C) | CSB-EP896761HU | Cusabio
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
Gene Names: USH1C
Research Areas: Neuroscience
Organism: Homo sapiens (Human)
AA Sequence: MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
Source: E.coli
Tag Info: N-terminal 6xHis-SUMO-tagged
Expression Region: 1-533aa
Sequence Info: Full Length of Isoform 4
MW: 76.3 kDa
Purity: Greater than 90% as determined by SDS-PAGE.
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)
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.
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
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: Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
Paythway:
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?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Uniprot ID: Q9Y6N9
HGNC Database Link: HGNC
UniGene Database Link: UniGene
KEGG Database Link: KEGG
STRING Database Link: STRING
OMIM Database Link: OMIM