GJB1

"CMTX" redirects here. For the nerve system disorder sometimes linked to the X chromosome, see Charcot–Marie–Tooth disease.
Gap junction protein, beta 1, 32kDa
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GJB1 ; CMTX; CMTX1; CX32
External IDs OMIM: 304040 MGI: 95719 HomoloGene: 137 IUPHAR: 723 GeneCards: GJB1 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 2705 14618
Ensembl ENSG00000169562 ENSMUSG00000047797
UniProt P08034 P28230
RefSeq (mRNA) NM_000166 NM_001302496
RefSeq (protein) NP_000157 NP_001289425
Location (UCSC) Chr X:
71.22 – 71.23 Mb		 Chr X:
101.38 – 101.39 Mb
PubMed search

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. doi:10.1016/0888-7543(92)90278-Z. PMID 1319395.
  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. doi:10.1126/science.8266101. PMID 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. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.

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. doi:10.1159/000117403. 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. doi:10.1093/brain/awg012. 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. 

External links

This article is issued from Wikipedia - version of the Wednesday, May 06, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.