GJA8
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هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.
GJA8 (Gap junction protein alpha 8) هوَ بروتين يُشَفر بواسطة جين GJA8 في الإنسان.[1][2][3]
الوظيفة[عدل]
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.الأهمية السريرية[عدل]
هذا القسم فارغ أو غير مكتمل، ساهم بتحريره.المراجع[عدل]
- ^ Shiels A، Mackay D، Ionides A، Berry V، Moore A، Bhattacharya S (Apr 1998). "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q". Am J Hum Genet. 62 (3): 526–32. PMC 1376956
. PMID 9497259. doi:10.1086/301762.
- ^ Church RL، Wang JH، Steele E (Aug 1995). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping". Curr Eye Res. 14 (3): 215–21. PMID 7796604. doi:10.3109/02713689509033517.
- ^ "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
قراءة متعمقة[عدل]
- Andrew L Harris؛ Darren Locke (2009). Connexins, A Guide. New York: Springer. صفحة 574. ISBN 978-1-934115-46-6.
- Cook PJ، Hamerton JL (1980). "Report of the committee on the genetic constitution of chromosome 1.". Cytogenet. Cell Genet. 25 (1-4): 9–20. PMID 396131. doi:10.1159/000131394.
- Jarvis LJ، Louis CF (1993). "The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70.". J. Membr. Biol. 130 (3): 251–63. PMID 1491428. doi:10.1007/bf00240482.
- Church RL، Wang JH، Steele E (1996). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping.". Curr. Eye Res. 14 (10): 979–81. PMID 8549164. doi:10.3109/02713689508995138.
- Geyer DD، Church RL، Steele EC، وآخرون. (1998). "Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1.". Mol. Vis. 3: 13. PMID 9479004.
- Dunia I، Recouvreur M، Nicolas P، وآخرون. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.". J. Cell Sci. 111 (15): 2109–20. PMID 9664032.
- Hopperstad MG، Srinivas M، Spray DC (2000). "Properties of gap junction channels formed by Cx46 alone and in combination with Cx50.". Biophys. J. 79 (4): 1954–66. PMC 1301086. PMID 11023900. doi:10.1016/S0006-3495(00)76444-7.
- Xu X، Berthoud VM، Beyer EC، Ebihara L (2002). "Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels.". J. Membr. Biol. 186 (2): 101–12. PMC 2744361. PMID 11944087. doi:10.1007/s00232-001-0139-5.
- Nielsen PA، Baruch A، Shestopalov VI، وآخرون. (2004). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1).". Mol. Biol. Cell. 14 (6): 2470–81. PMC 194895. PMID 12808044. doi:10.1091/mbc.E02-10-0637.
- Arora A، Minogue PJ، Liu X، وآخرون. (2006). "A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract.". J. Med. Genet. 43 (1): e2. PMC 2564510. PMID 16397066. doi:10.1136/jmg.2005.034108.
- Devi RR، Vijayalakshmi P (2006). "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.". Mol. Vis. 12: 190–5. PMID 16604058.
- Zhang X، Zou T، Liu Y، Qi Y (2006). "The gating effect of calmodulin and calcium on the connexin50 hemichannel.". Biol. Chem. 387 (5): 595–601. PMID 16740131. doi:10.1515/BC.2006.076.
- Ni X، Valente J، Azevedo MH، وآخرون. (2007). "Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies.". J. Med. Genet. 44 (8): 532–6. PMC 2597930. PMID 17412882. doi:10.1136/jmg.2006.047944.
- Kotsias BA، Salim M، Peracchia LL، Peracchia C (2007). "Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes.". J. Membr. Biol. 214 (1): 1–8. PMID 17546509. doi:10.1007/s00232-006-0064-8.
- Hansen L، Yao W، Eiberg H، وآخرون. (2007). "Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.". Invest. Ophthalmol. Vis. Sci. 48 (9): 3937–44. PMID 17724170. doi:10.1167/iovs.07-0013.
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