GJB3

Gap junction protein beta 3
معرفات
أسماء بديلة	gap junction protein, beta 3, 31kDa, GJB3, gap junction beta-3 protein, connexin 31, Cx31, Connexin-31
معرفات خارجية
تماثلات متسلسلة
	n/a
	n/a
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	ويكي بيانات
اعرض/عدّل إنسان

GJB3‏ (Gap junction protein beta 3) هوَ بروتين يُشَفر بواسطة جين GJB3 في الإنسان.^[1]^[2]^[3]

معلومات سريعة Gap junction protein beta 3, معرفات ...

إغلاق

[1]
Wenzel K، Manthey D، Willecke K، Grzeschik KH، Traub O (سبتمبر 1998). "Human gap junction protein connexin31: molecular cloning and expression analysis". Biochem Biophys Res Commun. ج. 248 ع. 3: 910–5. DOI:10.1006/bbrc.1998.9070. PMID:9704026.
[2]
Xia JH، Liu CY، Tang BS، Pan Q، Huang L، Dai HP، Zhang BR، Xie W، Hu DX، Zheng D، Shi XL، Wang DA، Xia K، Yu KP، Liao XD، Feng Y، Yang YF، Xiao JY، Xie DH، Huang JZ (ديسمبر 1998). "Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment". Nat Genet. ج. 20 ع. 4: 370–3. DOI:10.1038/3845. PMID:9843210.
[3]
"Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa". مؤرشف من الأصل في 2010-03-07.

Andrew L Harris؛ Darren Locke (2009). Connexins, A Guide. New York: Springer. ص. 574. ISBN:978-1-934115-46-6. مؤرشف من الأصل في 2019-12-07.
Coucke P، Van Camp G، Djoyodiharjo B، وآخرون (1994). "Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families". N. Engl. J. Med. ج. 331 ع. 7: 425–31. DOI:10.1056/NEJM199408183310702. PMID:8035838.
Van Camp G، Coucke PJ، Kunst H، وآخرون (1997). "Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p". Genomics. ج. 41 ع. 1: 70–4. DOI:10.1006/geno.1997.4624. PMID:9126484.
Richard G، Smith LE، Bailey RA، وآخرون (1998). "Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis". Nat. Genet. ج. 20 ع. 4: 366–9. DOI:10.1038/3840. PMID:9843209.
Liu XZ، Xia XJ، Xu LR، وآخرون (2000). "Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss". Hum. Mol. Genet. ج. 9 ع. 1: 63–7. DOI:10.1093/hmg/9.1.63. PMID:10587579.
Wilgoss A، Leigh IM، Barnes MR، وآخرون (2000). "Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis". J. Invest. Dermatol. ج. 113 ع. 6: 1119–22. DOI:10.1046/j.1523-1747.1999.00792.x. PMID:10594760.
Kelsell DP، Wilgoss AL، Richard G، وآخرون (2000). "Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family". Eur. J. Hum. Genet. ج. 8 ع. 2: 141–4. DOI:10.1038/sj.ejhg.5200407. PMID:10757647.
López-Bigas N، Rabionet R، Martínez E، وآخرون (2000). "Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene". Hum. Mutat. ج. 15 ع. 5: 481–2. DOI:10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7. PMID:10790215.
Richard G، Brown N، Smith LE، وآخرون (2000). "The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3". Hum. Genet. ج. 106 ع. 3: 321–9. DOI:10.1007/s004390051045. PMID:10798362.
López-Bigas N، Olivé M، Rabionet R، وآخرون (2001). "Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment". Hum. Mol. Genet. ج. 10 ع. 9: 947–52. DOI:10.1093/hmg/10.9.947. PMID:11309368.
Gottfried I، Landau M، Glaser F، وآخرون (2002). "A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein". Hum. Mol. Genet. ج. 11 ع. 11: 1311–6. DOI:10.1093/hmg/11.11.1311. PMID:12019212.
Nielsen PA، Beahm DL، Giepmans BN، وآخرون (2002). "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1". J. Biol. Chem. ج. 277 ع. 41: 38272–83. DOI:10.1074/jbc.M205348200. PMID:12154091.{{استشهاد بدورية محكمة}}: صيانة الاستشهاد: دوي مجاني غير معلم (link)
Di WL، Monypenny J، Common JE، وآخرون (2003). "Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations". Hum. Mol. Genet. ج. 11 ع. 17: 2005–14. DOI:10.1093/hmg/11.17.2005. PMID:12165562.
Diestel S، Richard G، Döring B، Traub O (2002). "Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells". Biochem. Biophys. Res. Commun. ج. 296 ع. 3: 721–8. DOI:10.1016/S0006-291X(02)00929-4. PMID:12176042.
Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
Mhatre AN، Weld E، Lalwani AK (2003). "Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment". Clin. Genet. ج. 63 ع. 2: 154–9. DOI:10.1034/j.1399-0004.2003.00031.x. PMID:12630965.
Rouan F، Lo CW، Fertala A، وآخرون (2004). "Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro". Exp. Dermatol. ج. 12 ع. 2: 191–7. DOI:10.1034/j.1600-0625.2003.120210.x. PMID:12702148.
Plantard L، Huber M، Macari F، وآخرون (2004). "Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis". Hum. Mol. Genet. ج. 12 ع. 24: 3287–94. DOI:10.1093/hmg/ddg364. PMID:14583444.
Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.