|Other Names||Gap junction gamma-3 protein, Connexin-302, Cx302, Connexin-313, Cx313, Gap junction epsilon-1 protein, GJC3, GJE1|
|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||One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.|
|Cellular Location||Cell membrane; Multi-pass membrane protein. Cell junction, gap junction|
|Tissue Location||CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney|
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This gene encodes a gap junction protein. The encodedprotein, also known as a connexin, plays a role in formation of gapjunctions, which provide direct connections between neighboringcells. Mutations in this gene have been reported to be associatedwith nonsyndromic hearing loss.
Yang, J.J., et al. Hum. Genet. 128(3):303-313(2010)Ramchander, P.V., et al. Genet Test Mol Biomarkers 14(4):539-541(2010)Hong, H.M., et al. Hum. Genet. 127(2):191-199(2010)Wang, W.H., et al. Audiol. Neurootol. 15(2):81-87(2010)Sargiannidou, I., et al. Neurobiol. Dis. 30(2):221-233(2008)
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