DFNB31 Antibody (monoclonal) (M02)
Mouse monoclonal antibody raised against a partial recombinant DFNB31.
|Application ||WB, E|
|Calculated MW||96558 Da|
|Other Names||Whirlin, Autosomal recessive deafness type 31 protein, DFNB31, KIAA1526, WHRN|
|Target/Specificity||DFNB31 (NP_056219, 808 a.a. ~ 907 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||DFNB31 Antibody (monoclonal) (M02) is for research use only and not for use in diagnostic or therapeutic procedures.|
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Provided below are standard protocols that you may find useful for product applications.
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 of this gene results in multiple transcript variants encoding different isoforms.
Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. Letra A, et al. Am J Med Genet A, 2010 Jul. PMID 20583170.Family-based association study for bipolar affective disorder. Secolin R, et al. Psychiatr Genet, 2010 Jun. PMID 20414141.Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Aller E, et al. Mol Vis, 2010 Mar 23. PMID 20352026.Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients. Toiyama Y, et al. Int J Oncol, 2009 Oct. PMID 19724906.Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. Ollila HM, et al. Mol Psychiatry, 2009 Apr. PMID 19308021.
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