| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}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] References1. ^{{cite journal |vauthors=Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF | title = Structure, chromosomal localization, and brain expression of human Cx36 gene | journal = J Neurosci Res | volume = 57 | issue = 5 | pages = 740–52 |date=Oct 1999 | pmid = 10462698 | pmc = | doi =10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z }}
2. ^1 {{cite web | title = Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57369| accessdate = }}
Further reading{{refbegin | 2}}- {{cite book|author1=Andrew L Harris |author2=Darren Locke | title = Connexins, A Guide | publisher = Springer | year = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6 | isbn = 978-1-934115-46-6}}
- {{cite journal |vauthors=de Brouwer AP, Pennings RJ, Roeters M |title=Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. |journal=Hum. Genet. |volume=112 |issue= 2 |pages= 156–63 |year= 2003 |pmid= 12522556 |doi= 10.1007/s00439-002-0833-0 |display-authors=etal}}
- {{cite journal |vauthors=Martin D, Tawadros T, Meylan L |title=Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines. |journal=J. Biol. Chem. |volume=278 |issue= 52 |pages= 53082–9 |year= 2004 |pmid= 14565956 |doi= 10.1074/jbc.M306861200 |display-authors=etal}}
- {{cite journal |vauthors=Bathelier C, François M, Lucotte G |title=Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness. |journal=Genet. Couns. |volume=15 |issue= 1 |pages= 61–6 |year= 2004 |pmid= 15083701 |doi= }}
- {{cite journal |vauthors=Degen J, Meier C, Van Der Giessen RS |title=Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice. |journal=J. Comp. Neurol. |volume=473 |issue= 4 |pages= 511–25 |year= 2004 |pmid= 15116387 |doi= 10.1002/cne.20085 |display-authors=etal}}
- {{cite journal |vauthors=Mas C, Taske N, Deutsch S |title=Association of the connexin36 gene with juvenile myoclonic epilepsy. |journal=J. Med. Genet. |volume=41 |issue= 7 |pages= e93 |year= 2004 |pmid= 15235036 |doi=10.1136/jmg.2003.017954 | pmc=1735851 |display-authors=etal}}
- {{cite journal|authorlink2=Howard Y. Chang |vauthors=Dobrenis K, Chang HY, Pina-Benabou MH |title=Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. |journal=J. Neurosci. Res. |volume=82 |issue= 3 |pages= 306–15 |year= 2006 |pmid= 16211561 |doi= 10.1002/jnr.20650 | pmc=2583240 |display-authors=etal}}
- {{cite journal |vauthors=Hempelmann A, Heils A, Sander T |title=Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. |journal=Epilepsy Res. |volume=71 |issue= 2-3 |pages= 223–8 |year= 2006 |pmid= 16876983 |doi= 10.1016/j.eplepsyres.2006.06.021 }}
- {{cite journal |vauthors=Aleksic B, Ishihara R, Takahashi N |title=Gap junction coding genes and schizophrenia: a genetic association study. |journal=J. Hum. Genet. |volume=52 |issue= 6 |pages= 498–501 |year= 2007 |pmid= 17427027 |doi= 10.1007/s10038-007-0142-5 |display-authors=etal}}
{{refend}}{{Ion channels|g4}}{{gene-15-stub}} 1 : Connexins |