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]
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]
de Brouwer AP, Pennings RJ, Roeters M, et al. (2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID12522556. S2CID310717.
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.
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