GJA8

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Gap junction protein, alpha 8, 50kDa
Identifiers
Symbols GJA8 ; CAE; CAE1; CX50; CZP1; MP70
External IDs OMIM600897 MGI99953 HomoloGene3857 IUPHAR: Cx50 GeneCards: GJA8 Gene
RNA expression pattern
PBB GE GJA8 208489 at tn.png
More reference expression data
Orthologs
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:
147.37 – 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[edit]

Interactions[edit]

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

References[edit]

  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]