Recombinant Human Gap junction gamma-2 protein (GJC2)

1. Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease. PMID:28712094
2. GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies. PMID:24374284
3. we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature. PMID:23550541
4. a novel homozygous mutation in GJC2 was identified in a 21-year-old female patient with Pelizaeus-Merzbacher-like disease PMID:23684670
5. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations PMID:22283455
6. Most of the Pelizaeus-Merzbacher-like disease (PMLD)-linked Cx47 mutants disrupt Cx47/Cx47 and Cx47/Cx43 GJ function in the glial network, which may play a role in leading to PMLD symptoms PMID:23544880
7. the extremely severe clinical Pelizaeus-Merzbacher-like disease form likely correlates with the predicted impairment of gap junction channel assembly resulting from the detrimental effect of the new p.Glu260Lys mutant allele on Cx47 protein PMID:22669416
8. founder mutation c.-167A>G localized in the GJC2 protein promoter region in patients with Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease PMID:23142375
9. 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 PMID:22351697
10. 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 PMID:21959080
11. Mutations within the GJC2 gene are associated with primary lymphoedema. PMID:21266381
12. The identification of GJC2 mutations as a cause of primary lymphedema PMID:20537300
13. GJA12 gene mutations reported from two Chinese Pelizaeus-Merzbacher-like disease patients PMID:19423250
14. She carried no GJA12 mutations. These facts suggested that this disease is a novel, autosomal recessive hypomyelinating leukodystrophy. PMID:20120347
15. Patients from one family carrying a homozygous frameshift mutation in GJA12 presenting with nystagmus and brain demyelinating disease. PMID:16969684
16. GJA12 mutations are the initiaial genetic test in patients with consanguineous parents with Pelizaeus-Merzbacher-like disease. PMID:17031678
17. study shows the Cx47 mutants associated with Pelizaeus-Merzbacher-like disease likely disrupt the gap junction coupling between astrocytes and oligodendrocytes PMID:17344063
18. The clinical phenotype of patients with a GJA12 mutation was evaluated and is overall comparable to the clinical features seen in mild forms of PLP1-related disorder but with better cognition and earlier signs of axonal degeneration. PMID:18094336
19. GJA12 alterations are a rare cause of Pelizaeus-Merzbacher-like disease even after extending the screening for copy number variation and for mutations in the non-coding region of GJA12. PMID:18521858
20. GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known. PMID:19056803

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HGNC: 17494

UNIGENE: Hs.100072

KEGG: hsa:57165

STRING: 9606.ENSP00000355675

OMIM: 608803