GJB1 gene expression

Stable Identifier
R-HSA-9615477
Type
Reaction [omitted]
Species
Homo sapiens
Compartment
nucleoplasm, plasma membrane
ReviewStatus
5/5
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GJB1 gene expression
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GJB1 (gap junction beta-1) is a component of the gap junction, which allows passage of ions and small molecules between adjacent cells (reviewed in Herve and Derangeon, 2013; Bortolozzi, 2018). GJB1, also known as Connexin32 (Cx32) is required in Schwann cells during the myelination process as well as for the maintenance of long term integrity. Mutations in GJB1 are associated with the predominant form of Charcot-Marie-Tooth disease (CMT) which results in progressive distal muscle weakness and peripheral neuropathy (Ionasescu et al, 1996; reviewed in Bortolozzi, 2018).
Two promoters, P1 and P2, drive expression of GBJ1. Expression in Schwann cells is regulated by the P2 promoter, which is bound by SOX10 and EGR2 along with its transcriptional co-regulators NAB1 and NAB2 to synergistically activate gene transcription (Neuhaus et al, 1996; Bondurand et al, 2001; Le et al, 2005; Lopez-Anido et al, 2015).
Literature References
PubMed ID Title Journal Year
30042657 What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi, M

Front Mol Neurosci 2018
8757034 Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

Ionasescu, VV, Searby, C, Ionasescu, R, Neuhaus, IM, Werner, R

Neurology 1996
16136673 Nab proteins are essential for peripheral nervous system myelination

Le, N, Nagarajan, R, Wang, JY, Svaren, J, LaPash, C, Araki, T, Schmidt, RE, Milbrandt, J

Nat. Neurosci. 2005
11734543 Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

Bondurand, N, Girard, M, Pingault, V, Lemort, N, Dubourg, O, Goossens, M

Hum. Mol. Genet. 2001
25974668 Differential Sox10 genomic occupancy in myelinating glia

Lopez-Anido, C, Sun, G, Koenning, M, Srinivasan, R, Hung, HA, Emery, B, Keles, S, Svaren, J

Glia 2015
22940728 Gap-junction-mediated cell-to-cell communication

Hervé, JC, Derangeon, M

Cell Tissue Res. 2013
8842374 The human connexin32 gene is transcribed from two tissue-specific promoters

Neuhaus, IM, Bone, L, Wang, S, Ionasescu, V, Werner, R

Biosci. Rep. 1996
Participants
Input
Output
Participates
as an event of
This event is regulated
Positively by
Regulator
GJB11 gene:SOX10:EGR2:NAB1,2 [nucleoplasm] (Homo sapiens)
Active Unit
EGR2 [nucleoplasm]
NAB1 [nucleoplasm]
NAB2 [nucleoplasm]
SOX10 [nucleoplasm]
Authored
Rothfels, K  (2019-08-16)
Reviewed
Aletta, J M  (2020-01-17)
Created
Rothfels, K  (2018-08-07)
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