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Gap junction protein, gamma 2, 47kDa

Cx47, GJA12, connexin47, HLD2
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: GAP, Cx32, Connexin 43, GJB6, Cx26
Papers on Cx47
Mouse Hepatitis Virus infection remodels Connexin43 mediated gap junction intercellular communication both in vitro and in vivo.
New
Das Sarma et al., Navadwīp, India. In J Virol, Jan 2016
More specifically, alteration of Cx43 may be the basis of the destabilization of Cx47 in oligodendrocytes seen in and around inflammatory demyelinating plaques in MS patients.
The role of neural connexins in HeLa cell mobility and intercellular communication through tunneling tubes.
New
Skeberdis et al., Kaunas, Lithuania. In Bmc Cell Biol, Dec 2015
Therefore, we examined the impact of Cxs expressed in the nervous system (Cx36, Cx40, Cx43, Cx45, and Cx47) on: 1) cell mobility; 2) formation and properties of TTs; and 3) transfer of siRNA between remote cells through TTs.
Activated immune response in an inherited leukodystrophy disease caused by the loss of oligodendrocyte gap junctions.
New
Scherer et al., Philadelphia, United States. In Neurobiol Dis, Oct 2015
Oligodendrocyte:oligodendrocyte (O:O) gap junction (GJ) coupling is a widespread and essential feature of the CNS, and is mediated by connexin47 (Cx47) and Cx32.
Early disruption of glial communication via connexin gap junction in multiple sclerosis, Baló's disease and neuromyelitis optica.
New
Masaki, Fukuoka, Japan. In Neuropathology, Oct 2015
We evaluated expression of astrocytic Cx43/Cx30 and oligodendrocytic Cx47/Cx32 in autopsied materials from MS, NMO and BD patients.
Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis.
New
Grigoriadis et al., Thessaloníki, Greece. In Glia, Oct 2015
Based on previous data, we focused on neuropathology at Day 50 post-induction (D50) and studied the expression of connexin43 (Cx43) and Cx47, two of the main glial gap junction (GJ) proteins, in relation to the intraventricular transplantation of GFP(+) NPCs and their integration with the host tissue.
Adenoviral vector carrying glial cell-derived neurotrophic factor for direct gene therapy in comparison with human umbilical cord blood cell-mediated therapy of spinal cord injury in rat.
New
Chelyshev et al., Kazan', Russia. In Spinal Cord, Oct 2015
Moreover, we observed distinct changes in the populations of glial cells; expression patterns of the specific markers for astrocytes (GFAP, S100B and AQP4), oligodendrocytes (PDGFαR and Cx47) and Schwann cells (P0) differed in various areas of the spinal cord of rats treated with AdV-GDNF and UCB-MCs+AdV-GDNF.
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients.
New
Boespflug Tanguy et al., Clermont-Ferrand, France. In Eur J Med Genet, Sep 2015
In addition, 80 patients with undetermined leukodystrophies, and negative for PLP1, GJA12, Sox10 and MCT8 mutations and PLP1 and Lamin B1 rearrangements, were tested.
A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.
New
Kleopa et al., Nicosia, Cyprus. In Neurogenetics, Jul 2015
Furthermore, co-expression with the other major oligodendrocyte connexin, Cx47, had no negative effect on GJ formation by Cx47.
Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model.
New
Kleopa et al., Nicosia, Cyprus. In Hum Mol Genet, May 2015
Oligodendrocytes are coupled by gap junctions (GJs) formed mainly by connexin47 (Cx47) and Cx32.
Oligodendrocyte gap junction loss and disconnection from reactive astrocytes in multiple sclerosis gray matter.
Kleopa et al., Nicosia, Cyprus. In J Neuropathol Exp Neurol, 2014
Because increasing cortical abnormalities correlate with disease progression and cognitive dysfunction, we examined the expression of oligodendrocytic connexin32 (Cx32) and Cx47 and their astrocytic partners Cx30 and Cx43 in cortical lesions and normal-appearing gray matter (NAGM) in MS patients.
Mutations in cardiovascular connexin genes.
Review
Kwak et al., Genève, Switzerland. In Biol Cell, 2014
Among others, Cx37, Cx40, Cx43, Cx45 and Cx47 are found in heart, blood and lymphatic vessels.
Gap junction communication in myelinating glia.
Review
Fields et al., Barcelona, Spain. In Biochim Biophys Acta, 2013
Alterations in metabolic coupling have been reported in animal models of X-linked Charcot-Marie-Tooth disease (CMTX) and Pelizaeus-Merzbarcher-like disease (PMLD), which are caused by mutations in the genes encoding for connexin 32 and connexin 47 respectively.
Inborn errors of brain myelin formation.
Review
Boespflug-Tanguy, Paris, France. In Handb Clin Neurol, 2012
The gap junction protein, gamma 2 gene (GJC2) encoding oligodendrocyte-specific connexin, has been shown to be involved in the autosomal recessive HLD2 (PMLD1 and SPG44).
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.
Review
Stevanin et al., Vienna, Austria. In J Neurol Sci, 2012
Among the AR-SPGs, ~20% of the patients carry mutations in the KIAA1840 (SPG11) gene whereas the 15 other genes are rarely mutated and account for SPGs in single families yet (CYP7B1 (SPG5), SPG7 (SPG7), ZFYVE26 (SPG15), ERLIN2 (SPG18), SPG20 (SPG20), ACP33 (SPG21), KIF1A (SPG30), FA2H (SPG35), NTE (SPG39), GJA12/GJC2 (SPG44), KIAA0415 (SPG48) and 4 genes encoding for the AP4-complex (SPG47)).
Panglial gap junctional communication is essential for maintenance of myelin in the CNS.
GeneRIF
Willecke et al., Bonn, Germany. In J Neurosci, 2012
This study demonistrated that Cx30/Cx47 double-deficient mice has the functional role of both connexins for interastrocytic, interoligodendrocytic, and panglial coupling, and show that both connexins are required for maintenance of myelin.
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
GeneRIF
Ferrell et al., Pittsburgh, United States. In Clin Cancer Res, 2012
Cx47 mutations were identified in individuals having secondary lymphedema following breast cancer treatment; these novel mutations are dysfunctional and provide evidence that altered gap junction function leads to lymphedema
Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
Review
Garbern et al., Wilmington, United States. In Semin Neurol, 2012
A similar constellation of signs and pattern of hypomyelination lead to the autosomal recessive disease called Pelizaeus-Merzbacher-like disease 1 (PMLD1) and the less-severe spastic paraplegia 44 (SPG44), caused by mutations of the gap junction protein, gamma-2 gene (GJC2), formerly known as the gap junction protein, α-12 gene (GJA12).
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
GeneRIF
Maher et al., Birmingham, United Kingdom. In Mol Genet Metab, 2011
We report the identification of the GJC2 promoter mutation (c.-167A>G) in nine patients from three unrelated Pakistani families with Pelizaeus-Merzbacher-like disease. Linkage analysis was consistent with a likely founder effect of this mutation
Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.
GeneRIF
Willecke et al., Bonn, Germany. In Plos Genet, 2011
PMLD1 (Pelizaeus-Merzbacher-like disease 1) is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue.
Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.
GeneRIF
Scherer et al., Philadelphia, United States. In Neurobiol Dis, 2011
oligodendrocyte-astrocyte gap junction coupling in Cx32 or Cx47 knockout mice. In the neocortex, oligodendrocytes appeared to be directly and exclusively coupled to astrocytes; Cx47, but not Cx32, was required for O:A coupling.
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