GJB4

From Wikipedia, the free encyclopedia

Gap junction protein, beta 4

Identifiers

GJB4; EKV; CX30.3; MGC21116

External IDs

OMIM: 605425 MGI: 95722 HomoloGene: 7339

Gene ontology
Molecular Function:	• gap-junction channel activity
Cellular Component:	• connexon complex • membrane • integral to membrane
Biological Process:	• cell communication • sensory perception of sound

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_153212 (mRNA)
NP_694944 (protein)

XM_001005325 (mRNA)
XP_001005325 (protein)

Location

Chr 1: 35 - 35 Mb

Chr 4: 126.85 - 126.86 Mb

Pubmed search

[1]

[2]

Gap junction protein, beta 4, also known as GJB4, is a human gene.^[1]

[edit] References

^ Entrez Gene: GJB4 gap junction protein, beta 4.

[edit] 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.