GJC2 Membrane Protein Introduction

Introduction of GJC2

Gap junction gamma-2 (GJC2) is also known as connexin-46.6 (Cx46.6), connexin-47 (Cx47) or gap junction alpha-12 (GJA12). It is encoded by the GJC2 gene in human and plays a key role in central and peripheral myelination. The GJC2 gene provides an instruction for the preparation of the protein connexin-47 which belongs to the gap junction connexin family, a group of proteins which form channels called gap junctions between cells. Gap junction proteins belong to the large family of homologous connexins and are comprised of 2 extracellular, 4 transmembrane, and 3 cytoplasmic domains. Gap junctions allow for the transport of small molecules, ions, and nutrients between cells. Gene Ontology annotations related to the GJC2 gene include gap junction channel activity. An important paralog of this gene is GJC1.

Function of GJC2 Membrane Protein

Homozygous or compound heterozygous defects in the GJC2 gene are responsible for the autosomal recessive Pelizaeus-Merzbacher-like disease-1. Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema. Several diseases are related to GJC2 such as Hypomyelinating, Leukodystrophy, Autosomal Recessive, 2 and Spastic Paraplegia 44.

GJC2 is produced in the brain and spinal cord (central nervous system), specifically in cells called oligodendrocytes which help coat nerve cells with a protective layer called myelin. Myelin is a fatty substance which insulates nerve fibers and promotes the rapid transmission of nerve impulses. Connexin-47 forms gap junctions which promote communication between oligodendrocytes or between oligodendrocytes and another nervous system cell called astrocytes. Communication between these cells is essential for the formation and maintenance of myelin.

Fig.1 Human Cx47–GFP topology, mutant map and the genomic DNA sequence alignment of near the two putative start codons of GJC2. (Kim, 2013)

Application of GJC2 Membrane Protein in Literature

1. Kim M.S., et al. The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions. Biochem J. 2013, 452(2): 249-58. PubMed ID: 23544880
   
   

   The study suggests that most of the 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.

2. Lyons O., et al. Human venous valve disease caused by mutations in FOXC2 and GJC2. J Exp Med. 2017, 214(8): 2437-2452. PubMed ID: 28724617
   
   

   The article indicates that OXC2 and GJC2 mutations are associated with reduced venous valves number and length, which leads to human venous valve disease.

3. Ji T., et al. Identification of GJC2 gene mutations in chinese patients with Pelizaeus-Merzbacher-like disease. Minerva Pediatr. 2016. PubMed ID: 27057822
   
   

   The article shows six GJC2 novel mutations in six patients from five pedigrees who are diagnosed with Pelizaeus-Merzbacher-like disease (PMLD). These findings provide bases for genetic counseling and prenatal diagnosis of PMLD.

4. Abrams C.K., et al. A new mutation in GJC2 associated with subclinical leukodystrophy. J Neurol. 2014, 261(10): 1929-38 PubMed ID: 25059390
   
   

   The article reveals that the new Arg98Leu mutation in GJC2 is associated with subclinical leukodystrophy.

5. Gotoh L., et al. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014, 111(3): 393-398. PubMed ID: 24374284
   
   

   This article reports that GJC2 promoter mutations play a role in Pelizaeus-Merzbacher-like disease and the screening of the mutation should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.

GJC2 Preparation Options

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Reference

1. Kim M S, et al. (2013). The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions. Biochem J. 452(2), 249-58.

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