|Other Names||Transmembrane inner ear expressed protein, TMIE|
|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||Unknown. The protein may play some role in a cellular membrane location. May reside within an internal membrane compartment and function in pathways such as those involved in protein and/or vesicle trafficking. Alternatively, the mature protein may be localized in the plasma membrane and serve as a site of interaction for other molecules through its highly charged C-terminal domain.|
|Cellular Location||Membrane; Single-pass type I membrane protein|
|Tissue Location||Expressed in many tissues.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment.
Yang, J.J., et al. Int. J. Pediatr. Otorhinolaryngol. (2010) In press Sirmaci, A., et al. Clin. Genet. 75(6):562-567(2009)Santos, R.L., et al. J. Mol. Med. 84(3):226-231(2006)Cho, K.I., et al. Comp. Med. 53(6):642-648(2003)Naz, S., et al. Am. J. Hum. Genet. 71(3):632-636(2002)Mitchem, K.L., et al. Hum. Mol. Genet. 11(16):1887-1898(2002)
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