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Open Access Articles- Top Results for GJA8

GJA8

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Identifiers
SymbolsGJA8 ; CAE; CAE1; CTRCT1; CX50; CZP1; MP70
External IDsOMIM600897 MGI99953 HomoloGene3857 IUPHAR: 732 GeneCards: GJA8 Gene
RNA expression pattern
File:PBB GE GJA8 208489 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez270314616
EnsemblENSG00000121634ENSMUSG00000049908
UniProtP48165P28236
RefSeq (mRNA)NM_005267NM_008123
RefSeq (protein)NP_005258NP_032149
Location (UCSC)Chr 1:
147.37 – 147.38 Mb
Chr 3:
96.92 – 96.93 Mb
PubMed search[1][2]
Connexin50
Identifiers
Symbol Connexin50
Pfam PF03509
InterPro IPR002266

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.[1][2][3] It is also known as connexin 50.

Related gene problems

Interactions

GJA8 has been shown to interact with Tight junction protein 1.[6]

References

  1. ^ 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. 
  2. ^ 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. 
  3. ^ "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa". 
  4. ^ a b Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D et al. (October 2008). "Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes". N. Engl. J. Med. 359 (16): 1685–99. PMC 2703742. PMID 18784092. doi:10.1056/NEJMoa0805384. 
  5. ^ Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X (January 2002). "Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation". Development 129 (1): 167–74. PMID 11782410. 
  6. ^ Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, Kumar NM (June 2003). "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. 

Further reading

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