GJB3

GJB3

Gap junction protein, beta 3, 31kDa, also known as GJB3, is a human gene.cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2707| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein.cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2707| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Coucke P, Van Camp G, Djoyodiharjo B, "et al." |title=Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. |journal=N. Engl. J. Med. |volume=331 |issue= 7 |pages= 425–31 |year= 1994 |pmid= 8035838 |doi=
*cite journal | author=Van Camp G, Coucke PJ, Kunst H, "et al." |title=Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. |journal=Genomics |volume=41 |issue= 1 |pages= 70–4 |year= 1997 |pmid= 9126484 |doi= 10.1006/geno.1997.4624
*cite journal | author=Wenzel K, Manthey D, Willecke K, "et al." |title=Human gap junction protein connexin31: molecular cloning and expression analysis. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 3 |pages= 910–5 |year= 1998 |pmid= 9704026 |doi= 10.1006/bbrc.1998.9070
*cite journal | author=Richard G, Smith LE, Bailey RA, "et al." |title=Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 366–9 |year= 1998 |pmid= 9843209 |doi= 10.1038/3840
*cite journal | author=Xia JH, Liu CY, Tang BS, "et al." |title=Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. |journal=Nat. Genet. |volume=20 |issue= 4 |pages= 370–3 |year= 1998 |pmid= 9843210 |doi= 10.1038/3845
*cite journal | author=Liu XZ, Xia XJ, Xu LR, "et al." |title=Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. |journal=Hum. Mol. Genet. |volume=9 |issue= 1 |pages= 63–7 |year= 2000 |pmid= 10587579 |doi=
*cite journal | author=Wilgoss A, Leigh IM, Barnes MR, "et al." |title=Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. |journal=J. Invest. Dermatol. |volume=113 |issue= 6 |pages= 1119–22 |year= 2000 |pmid= 10594760 |doi= 10.1046/j.1523-1747.1999.00792.x
*cite journal | author=Kelsell DP, Wilgoss AL, Richard G, "et al." |title=Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. |journal=Eur. J. Hum. Genet. |volume=8 |issue= 2 |pages= 141–4 |year= 2000 |pmid= 10757647 |doi= 10.1038/sj.ejhg.5200407
*cite journal | author=López-Bigas N, Rabionet R, Martínez E, "et al." |title=Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. |journal=Hum. Mutat. |volume=15 |issue= 5 |pages= 481–2 |year= 2000 |pmid= 10790215 |doi= 10.1002/(SICI)1098-1004(200005)15:5<481::AID-HUMU15>3.0.CO;2-7 |doilabel=10.1002/(SICI)1098-1004(200005)15:5481::AID-HUMU153.0.CO;2-7
*cite journal | author=Richard G, Brown N, Smith LE, "et al." |title=The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. |journal=Hum. Genet. |volume=106 |issue= 3 |pages= 321–9 |year= 2000 |pmid= 10798362 |doi=
*cite journal | author=López-Bigas N, Olivé M, Rabionet R, "et al." |title=Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. |journal=Hum. Mol. Genet. |volume=10 |issue= 9 |pages= 947–52 |year= 2001 |pmid= 11309368 |doi=
*cite journal | author=Gottfried I, Landau M, Glaser F, "et al." |title=A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. |journal=Hum. Mol. Genet. |volume=11 |issue= 11 |pages= 1311–6 |year= 2002 |pmid= 12019212 |doi=
*cite journal | author=Nielsen PA, Beahm DL, Giepmans BN, "et al." |title=Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. |journal=J. Biol. Chem. |volume=277 |issue= 41 |pages= 38272–83 |year= 2002 |pmid= 12154091 |doi= 10.1074/jbc.M205348200
*cite journal | author=Di WL, Monypenny J, Common JE, "et al." |title=Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. |journal=Hum. Mol. Genet. |volume=11 |issue= 17 |pages= 2005–14 |year= 2003 |pmid= 12165562 |doi=
*cite journal | author=Diestel S, Richard G, Döring B, Traub O |title=Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. |journal=Biochem. Biophys. Res. Commun. |volume=296 |issue= 3 |pages= 721–8 |year= 2002 |pmid= 12176042 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Mhatre AN, Weld E, Lalwani AK |title=Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. |journal=Clin. Genet. |volume=63 |issue= 2 |pages= 154–9 |year= 2003 |pmid= 12630965 |doi=
*cite journal | author=Rouan F, Lo CW, Fertala A, "et al." |title=Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. |journal=Exp. Dermatol. |volume=12 |issue= 2 |pages= 191–7 |year= 2004 |pmid= 12702148 |doi=
*cite journal | author=Plantard L, Huber M, Macari F, "et al." |title=Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. |journal=Hum. Mol. Genet. |volume=12 |issue= 24 |pages= 3287–94 |year= 2004 |pmid= 14583444 |doi= 10.1093/hmg/ddg364
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504

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