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Gap junction protein, alpha 8, 50kDa
Symbols GJA8 ; CAE; CAE1; CTRCT1; CX50; CZP1; MP70
External IDs OMIM600897 MGI99953 HomoloGene3857 IUPHAR: 732 GeneCards: GJA8 Gene
RNA expression pattern
PBB GE GJA8 208489 at tn.png
More reference expression data
Species Human Mouse
Entrez 2703 14616
Ensembl ENSG00000121634 ENSMUSG00000049908
UniProt P48165 P28236
RefSeq (mRNA) NM_005267 NM_008123
RefSeq (protein) NP_005258 NP_032149
Location (UCSC) Chr 1:
147.91 – 147.91 Mb
Chr 3:
96.91 – 96.93 Mb
PubMed search [1] [2]
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[edit]


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


  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. doi:10.1086/301762. PMC 1376956. PMID 9497259. 
  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. doi:10.3109/02713689509033517. PMID 7796604. 
  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. doi:10.1056/NEJMoa0805384. PMC 2703742. PMID 18784092. 
  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. doi:10.1091/mbc.E02-10-0637. PMC 194895. PMID 12808044. 

Further reading[edit]