|Other Names||Pejvakin, Autosomal recessive deafness type 59 protein, DFNB59, PJVK|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Essential in the activity of auditory pathway neurons.|
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Provided below are standard protocols that you may find useful for product applications.
The protein encoded by this gene is a member of thegasdermin family, a family which is found only in vertebrates. Theencoded protein is required for the proper function of auditorypathway neurons. Defects in this gene are a cause of non-syndromicsensorineural deafness autosomal recessive type 59 (DFNB59).
Mahdieh, N., et al. J. Hum. Genet. 55(10):639-648(2010)Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)Hashemzadeh Chaleshtori, M., et al. Clin. Genet. 72(3):261-263(2007)Collin, R.W., et al. Hum. Mutat. 28(7):718-723(2007)
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