GJB4
Gap junction protein, beta 4 | |||||||||||
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Identifiers | |||||||||||
Symbols | GJB4 ; EKV; CX30.3; MGC21116 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 7339 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Gap junction protein, beta 4, also known as GJB4, is a human gene.[1]
References
Further reading
- Gregory SG, Barlow KF, McLay KE; et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Common JE, O'Toole EA, Leigh IM; et al. (2006). "Clinical and genetic heterogeneity of erythrokeratoderma variabilis". J. Invest. Dermatol. 125 (5): 920–7. doi:10.1111/j.0022-202X.2005.23919.x. PMID 16297190.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Plantard L, Huber M, Macari F; et al. (2004). "Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis". Hum. Mol. Genet. 12 (24): 3287–94. doi:10.1093/hmg/ddg364. PMID 14583444.
- Richard G, Brown N, Rouan F; et al. (2003). "Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations". J. Invest. Dermatol. 120 (4): 601–9. doi:10.1046/j.1523-1747.2003.12080.x. PMID 12648223.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- López-Bigas N, Melchionda S, Gasparini P; et al. (2002). "A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families". Hum. Mutat. 19 (4): 458. doi:10.1002/humu.9023. PMID 11933201.
- Manthey D, Banach K, Desplantez T; et al. (2001). "Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels". J. Membr. Biol. 181 (2): 137–48. PMID 11420600.
- Macari F, Landau M, Cousin P; et al. (2000). "Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis". Am. J. Hum. Genet. 67 (5): 1296–301. PMID 11017804.
- Hennemann H, Dahl E, White JB; et al. (1992). "Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin". J. Biol. Chem. 267 (24): 17225–33. PMID 1512260.
- Hacham-Zadeh S, Even-Paz Z (1978). "Erythrokeratodermia variabilis in a Jewish Kurdish family". Clin. Genet. 13 (5): 404–8. PMID 148984.
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