GJD2 explained

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 GJD2 gene.^{[1] [2]}

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.^[2]

Further reading

• Book: Andrew L Harris . Darren Locke . Connexins, A Guide . Springer . 2009 . New York . 574 . 978-1-934115-46-6.
• de Brouwer AP, Pennings RJ, Roeters M . 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 . 2003 . 12522556 . 10.1007/s00439-002-0833-0 . 310717 . etal.
• Martin D, Tawadros T, Meylan L . Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines. . J. Biol. Chem. . 278 . 52 . 53082–9 . 2004 . 14565956 . 10.1074/jbc.M306861200 . etal. free .
• Bathelier C, François M, Lucotte G . Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness. . Genet. Couns. . 15 . 1 . 61–6 . 2004 . 15083701 .
• Degen J, Meier C, Van Der Giessen RS . Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice. . J. Comp. Neurol. . 473 . 4 . 511–25 . 2004 . 15116387 . 10.1002/cne.20085 . 10347889 . etal.
• Mas C, Taske N, Deutsch S . Association of the connexin36 gene with juvenile myoclonic epilepsy. . J. Med. Genet. . 41 . 7 . e93 . 2004 . 15235036 . 10.1136/jmg.2003.017954 . 1735851 . etal.
• Howard Y. Chang . Dobrenis K, Chang HY, Pina-Benabou MH . Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. . J. Neurosci. Res. . 82 . 3 . 306–15 . 2006 . 16211561 . 10.1002/jnr.20650 . 2583240 . etal.
• Hempelmann A, Heils A, Sander T . Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. . Epilepsy Res. . 71 . 2–3 . 223–8 . 2006 . 16876983 . 10.1016/j.eplepsyres.2006.06.021 . 21966870 .
• Aleksic B, Ishihara R, Takahashi N . Gap junction coding genes and schizophrenia: a genetic association study. . J. Hum. Genet. . 52 . 6 . 498–501 . 2007 . 17427027 . 10.1007/s10038-007-0142-5 . etal. free .

Notes and References

1. Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF . Structure, chromosomal localization, and brain expression of human Cx36 gene . J Neurosci Res . 57 . 5 . 740–52 . Oct 1999 . 10462698 . 10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z . 496510 .
2. Web site: Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa.