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Open Access Articles- Top Results for GJB1

GJB1

"CMTX" redirects here. For the nerve system disorder sometimes linked to the X chromosome, see Charcot–Marie–Tooth disease.
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Identifiers
SymbolsGJB1 ; CMTX; CMTX1; CX32
External IDsOMIM304040 MGI95719 HomoloGene137 IUPHAR: 723 GeneCards: GJB1 Gene
RNA expression pattern
File:PBB GE GJB1 204973 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez270514618
EnsemblENSG00000169562ENSMUSG00000047797
UniProtP08034P28230
RefSeq (mRNA)NM_000166NM_008124
RefSeq (protein)NP_000157NP_032150
Location (UCSC)Chr X:
70.44 – 70.45 Mb
Chr X:
101.38 – 101.39 Mb
PubMed search[1][2]

Gap junction beta-1 protein (GJB1), also known as connexin 32 (Cx32) — is a protein that in humans is encoded by the GJB1 gene.[1]

Function

Connexins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells.[2] For a general discussion of connexin proteins, see GJB2.[3]

In melanocytic cells GJB1 gene expression may be regulated by MITF.[4]

See also

References

  1. Corcos IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (Jul 1992). "Refined localization of human connexin32 gene locus, GJB1, to Xq13.1". Genomics 13 (2): 479–80. PMID 1319395. doi:10.1016/0888-7543(92)90278-Z. 
  2. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (December 1993). "Connexin mutations in X-linked Charcot-Marie-Tooth disease". Science 262 (5142): 2039–42. PMID 8266101. doi:10.1126/science.8266101. 
  3. "Entrez Gene: GJB1 gap junction protein, beta 1, 32kDa". 
  4. Hoek KS, Schlegel NC, Eichhoff OM et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. PMID 19067971. doi:10.1111/j.1755-148X.2008.00505.x. 

Further reading

  • Andrew L Harris and Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6. 
  • 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. doi:10.1159/000117403. 
  • 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. PMID 9361298. doi:10.1006/nbdi.1997.0152. 
  • 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. PMID 9888385. doi:10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A. 
  • 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. doi:10.1093/brain/awg012. 
  • 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. PMID 17565422. doi:10.1007/s00232-007-9020-5. 
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External links

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