GJB1

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"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 OMIM304040 MGI95719 HomoloGene137 IUPHAR: Cx32 GeneCards: GJB1 Gene
RNA expression pattern
PBB GE GJB1 204973 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2705 14618
Ensembl ENSG00000169562 ENSMUSG00000047797
UniProt P08034 P28230
RefSeq (mRNA) NM_000166 NM_008124
RefSeq (protein) NP_000157 NP_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[edit]

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[edit]

References[edit]

  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[edit]

  • 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[edit]