GJB1

Gap junction protein, beta 1, 32kDa
Identifiers
Symbols	GJB1; CMTX; CMTX1; CX32
External IDs	OMIM: 304040 MGI: 95719 HomoloGene: 137 GeneCards: GJB1 Gene
Gene Ontology Molecular function • gap junction channel activity Cellular component • endoplasmic reticulum • endoplasmic reticulum membrane • plasma membrane • connexon complex • integral to membrane • cell junction Biological process • transport • cell-cell signaling • nervous system development • purine ribonucleotide transport • cellular membrane organization • gap junction assembly • protein oligomerization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2705	14618
Ensembl	ENSG00000169562	ENSMUSG00000047797
UniProt	P08034	P28230
RefSeq (mRNA)	NM_000166.5	NM_008124.2
RefSeq (protein)	NP_000157.1	NP_032150.2
Location (UCSC)	Chr X: 70.44 – 70.45 Mb	Chr X: 98.57 – 98.58 Mb
PubMed search	[1]	[2]

Gap junction beta-1 protein 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

• Connexin
• Gap junction

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2705. 
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. pp. 574. ISBN 978-1-934115-46-6. http://www.springer.com/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

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy X Type 1
• OMIM entries on Charcot-Marie-Tooth Neuropathy X Type 1