In this article we are going to delve into the exciting world of GJD2. From its origins to its relevance today, this topic/person/date has captured the attention of countless individuals throughout history. Through this writing, we will explore its different facets, analyze its impact on society and reflect on its influence in various areas. Without a doubt, GJD2 is a topic of great interest that deserves to be explored and understood in depth.
Gap junction delta-2 protein (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9), is a protein that in humans is encoded by the GJD2gene.[5][6]
Function
GJD2, also called connexin-36 (CX36), is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins.[6]
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Bathelier C, François M, Lucotte G (2004). "Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness". Genet. Couns. 15 (1): 61–6. PMID15083701.
Degen J, Meier C, Van Der Giessen RS, et al. (2004). "Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice". J. Comp. Neurol. 473 (4): 511–25. doi:10.1002/cne.20085. PMID15116387. S2CID10347889.
