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GJB2

gjb2 hearing loss, gjb2 gene
2ZW3, 3IZ1, 3IZ2, 5ERA, 5ER7

Identifiers Aliases GJB2, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction protein beta 2 External IDs MGI: 95720 HomoloGene: 2975 GeneCards: GJB2 Orthologs Species Human Mouse Entrez
Ensembl
UniProt
RefSeq mRNA

NM_004004

NM_008125

RefSeq protein

NP_003995

NP_032151

Location UCSC Chr 13: 2019 – 2019 Mb Chr 14: 571 – 571 Mb PubMed search 1 2 Wikidata
  • ^ "Human PubMed Reference:" 
  • ^ "Mouse PubMed Reference:" 
  • ^ Kelsell, D P; Dunlop, J; Stevens, H P; Lench, N J; Liang, J N; Parry, G; Mueller, R F; Leigh, I M 1997-05-01 "Connexin 26 mutations in hereditary non-syndromic sensorineural deafness" Nature 387 6628: 80–83 doi:101038/387080a0 
  • ^ "Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa" 
  • Further readingedit

    • Kenneson A, Van Naarden Braun K, Boyle C 2002 "GJB2 connexin 26 variants and nonsyndromic sensorineural hearing loss: a HuGE review" Genet Med 4 4: 258–74 PMID 12172392 doi:101097/00125817-200207000-00004 
    • Thalmann R, Henzl MT, Killick R, et al 2003 "Toward an understanding of cochlear homeostasis: the impact of location and the role of OCP1 and OCP2" Acta Otolaryngol 123 2: 203–8 PMID 12701741 doi:101080/0036554021000028100 
    • Yotsumoto S, Hashiguchi T, Chen X, et al 2003 "Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome" Br J Dermatol 148 4: 649–53 PMID 12752120 doi:101046/j1365-2133200305245x 
    • Apps SA, Rankin WA, Kurmis AP 2007 "Connexin 26 mutations in autosomal recessive deafness disorders: a review" International journal of audiology 46 2: 75–81 PMID 17365058 doi:101080/14992020600582190 
    • Welch KO, Marin RS, Pandya A, Arnos KS 2007 "Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature" Am J Med Genet A 143 14: 1567–73 PMID 17431919 doi:101002/ajmga31701 
    • Harris, A; Locke, D 2009 Connexins, A Guide New York: Springer p 574 ISBN 978-1-934115-46-6 

    External linksedit

    • Smith, Richard JH; Shearer, A Eliot; Hildebrand, Michael S; Van Camp, Guy 2014-01-09 Deafness and Hereditary Hearing Loss Overview NBK1434  In Pagon RA, Bird TD, Dolan CR, et al, eds 1993– GeneReviews™ Internet Seattle WA: University of Washington, Seattle  Check date values in: |date= help
    • Smith, Richard JH; Sheffield, Abraham M; Van Camp, Guy 2012-04-19 Nonsyndromic Hearing Loss and Deafness, DFNA3 NBK1536  In GeneReviews
    • Smith, Richard JH; Van Camp, Guy 2014-01-02 Nonsyndromic Hearing Loss and Deafness, DFNB1 NBK1272  In GeneReviews


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    GJB2 Information about

    GJB2


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      GJB2 beatiful post thanks!

      29.10.2014


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