connexin-26; gap junction protein beta-2 (CX26, GJB2)
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Function
Structure
- belongs to the connexin family, beta-type (group I) subfamily
Compartment
Pathology
- homozygous mutations in the connexin 26 (GJB2) are associated with congenital hearing loss[5]
- heterozygous GJB2 mutations are associated with a thickened epidermis[5]
- defects in GJB2 are the cause of
- non-syndromic sensorineural deafness autosomal recessive type 1 (DFNB1)
- autosomal dominant non-syndromic sensorineural deafness type 3 (DFNA3)
- Vohwinkel syndrome
- palmoplantar keratoderma with deafness
- keratitis-ichthyosis-deafness syndrome
- Bart-Pumphrey syndrome
- ichthyosis hystrix-like with deafness syndrome
Polymorphism
- Thr-34 allele was originally thought to be a cause of hereditary non-syndromic sensorineural deafness (DFNA3 & DFNB1)
Laboratory
More general terms
References
- ↑ Swiss Prot :accession P29033
- ↑ Connexin-deafness homepage http://davinci.crg.es/deafness/
- ↑ Hereditary hearing loss homepage; Note: gene page http://webhost.ua.ac.be/hhh/
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB2
- ↑ 5.0 5.1 5.2 D'Adamo P et al. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? Eur J Hum Genet 2009 Mar; 17:284. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19050724
- ↑ Kelsell DP et al Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997 May 1;387(6628):80-3 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9139825
Database
- UniProt: http://www.uniprot.org/uniprot/P29033.html
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2706
- OMIM: https://mirror.omim.org/entry/121011
- OMIM: https://mirror.omim.org/entry/124500
- OMIM: https://mirror.omim.org/entry/148210
- OMIM: https://mirror.omim.org/entry/148350
- OMIM: https://mirror.omim.org/entry/149200
- OMIM: https://mirror.omim.org/entry/220290
- OMIM: https://mirror.omim.org/entry/601544
- OMIM: https://mirror.omim.org/entry/602540