Biology:GJD2
From HandWiki
 Generic protein structure example |
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]
References
- ↑ "Structure, chromosomal localization, and brain expression of human Cx36 gene". J Neurosci Res 57 (5): 740–52. Oct 1999. doi:10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z. PMID 10462698.
- ↑ 2.0 2.1 "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57369.
Further reading
- Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. pp. 574. ISBN 978-1-934115-46-6. https://www.springer.com/978-1-934115-46-6.
- "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. doi:10.1007/s00439-002-0833-0. PMID 12522556.
- "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. doi:10.1074/jbc.M306861200. PMID 14565956.
- "Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness.". Genet. Couns. 15 (1): 61–6. 2004. PMID 15083701.
- "Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice.". J. Comp. Neurol. 473 (4): 511–25. 2004. doi:10.1002/cne.20085. PMID 15116387.
- "Association of the connexin36 gene with juvenile myoclonic epilepsy.". J. Med. Genet. 41 (7): e93. 2004. doi:10.1136/jmg.2003.017954. PMID 15235036.
- "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. doi:10.1002/jnr.20650. PMID 16211561.
- "Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.". Epilepsy Res. 71 (2–3): 223–8. 2006. doi:10.1016/j.eplepsyres.2006.06.021. PMID 16876983.
- "Gap junction coding genes and schizophrenia: a genetic association study.". J. Hum. Genet. 52 (6): 498–501. 2007. doi:10.1007/s10038-007-0142-5. PMID 17427027.
External links
- Overview of all the structural information available in the PDB for UniProt: Q9UKL4 (Gap junction delta-2 protein) at the PDBe-KB.
 |
