GJB1

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Gap junction protein, beta 1, 32kDa
Identifiers
Symbol(s) GJB1; CMTX; CMTX1; CX32
External IDs OMIM: 304040 MGI: 95719 HomoloGene: 137
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2705 14618
Ensembl ENSG00000169562 ENSMUSG00000047797
Uniprot P08034 P28230
Refseq NM_000166 (mRNA)
NP_000157 (protein)		 NM_008124 (mRNA)
NP_032150 (protein)
Location Chr X: 70.35 - 70.36 Mb Chr X: 97.58 - 97.59 Mb
Pubmed search [1] [2]

Gap junction protein, beta 1, 32kDa, also known as GJB1, is a human gene.

Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells (Bergoffen et al., 1993). For a general discussion of connexin proteins, see GJB2 (MIM 121011).[supplied by OMIM][1]

[edit] See also

[edit] References

  1. ^ Entrez Gene: GJB1 gap junction protein, beta 1, 32kDa.

[edit] Further reading

  • Latour P, Fabreguette A, Ressot C, et al. (1997). "New mutations in the X-linked form of Charcot-Marie-Tooth disease.". Eur. Neurol. 37 (1): 38–42. PMID 9018031. 
  • Bone LJ, Deschênes SM, Balice-Gordon RJ, et al. (1997). "Connexin32 and X-linked Charcot-Marie-Tooth disease.". Neurobiol. Dis. 4 (3-4): 221–30. doi:10.1006/nbdi.1997.0152. PMID 9361298. 
  • Nelis E, Haites N, Van Broeckhoven C (1999). "Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.". Hum. Mutat. 13 (1): 11–28. doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. PMID 9888385. 
  • Hattori N, Yamamoto M, Yoshihara T, et al. (2003). "Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.". Brain 126 (Pt 1): 134–51. PMID 12477701. 
  • Sato H, Hagiwara H, Ohde Y, et al. (2007). "Regulation of renal cell carcinoma cell proliferation, invasion and metastasis by connexin 32 gene.". J. Membr. Biol. 216 (1): 17–21. doi:10.1007/s00232-007-9020-5. PMID 17565422. 
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