Product Name
Whirlin (WHRN), Recombinant Protein
Full Product Name
Recombinant Human Whirlin (WHRN) , partial
Product Gene Name
WHRN recombinant protein
[Similar Products]
Product Synonym Gene Name
WHRN[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q9P202
Host
E Coli or Yeast or Baculovirus or Mammalian Cell
Purity/Purification
>85% (SDS-PAGE) (lot specific)
Form/Format
Liquid containing glycerol
Tag Information
This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.
Sterility
Sterile filter available upon request.
Endotoxin
Low endotoxin available upon request.
Storage Buffer
Tris-based buffer, 50% glycerol
Preparation and Storage
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of WHRN recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for WHRN. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001077354.2
[Other Products]
NCBI GenBank Nucleotide #
NM_001083885.2
[Other Products]
UniProt Primary Accession #
Q9P202
[Other Products]
UniProt Secondary Accession #
Q5TAU9; Q5TAV0; Q5TAV1; Q5TAV2; Q96MZ9; Q9H9F4; Q9UFZ3; A5PKU1; A5PKZ9[Other Products]
UniProt Related Accession #
Q9P202[Other Products]
Molecular Weight
59,260 Da
NCBI Official Full Name
whirlin isoform 2
NCBI Official Synonym Full Names
whirlin
NCBI Official Symbol
WHRN [Similar Products]
NCBI Official Synonym Symbols
WI; CIP98; USH2D; DFNB31; PDZD7B
[Similar Products]
NCBI Protein Information
whirlin
UniProt Protein Name
Whirlin
UniProt Synonym Protein Names
Autosomal recessive deafness type 31 protein
UniProt Gene Name
WHRN [Similar Products]
NCBI Summary for WHRN
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
UniProt Comments for WHRN
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.
Research Articles on WHRN
1. A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes.">Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes.
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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