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GJA8

GJA8
Identifiers
AliasesGJA8, CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
External IDsOMIM: 600897 MGI: 99953 HomoloGene: 3857 GeneCards: GJA8
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for GJA8
Genomic location for GJA8
Band1q21.2Start147,907,956 bp[1]
End147,909,257 bp[1]
RNA expression pattern
PBB GE GJA8 208489 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005267

NM_008123

RefSeq (protein)

NP_005258

NP_032149

Location (UCSC)Chr 1: 147.91 – 147.91 MbChr 3: 96.91 – 96.93 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Connexin50
Identifiers
SymbolConnexin50
PfamPF03509
InterProIPR002266

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.[5][6][7] It is also known as connexin 50.

Related gene problems

Interactions

GJA8 has been shown to interact with Tight junction protein 1.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121634 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049908 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
  8. ^ 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.
  9. ^ 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.
  10. ^ 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