Biology:GJC2

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

Function

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.

Clinical significance

Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.

Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.

Further reading

• "Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.". J. Med. Genet. 48 (4): 251–5. 2011. doi:10.1136/jmg.2010.085563. PMID 21266381. http://openaccess.sgul.ac.uk/100981/1/Ostergaard_etal_2011_GJC2.pdf. 
• "Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.". J. Neurosci. 23 (11): 4549–59. 2003. doi:10.1523/JNEUROSCI.23-11-04549.2003. PMID 12805295. 
• "Connexins are critical for normal myelination in the CNS.". J. Neurosci. 23 (13): 5963–73. 2003. doi:10.1523/JNEUROSCI.23-13-05963.2003. PMID 12843301. 
• "A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.". Neurogenetics 8 (1): 57–60. 2007. doi:10.1007/s10048-006-0065-x. PMID 17031678. 
• "GJC2 missense mutations cause human lymphedema.". Am. J. Hum. Genet. 86 (6): 943–8. 2010. doi:10.1016/j.ajhg.2010.04.010. PMID 20537300. 
• "Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.". Am. J. Hum. Genet. 75 (2): 251–60. 2004. doi:10.1086/422763. PMID 15192806. 
• "Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.". Brain 132 (Pt 2): 426–38. 2009. doi:10.1093/brain/awn328. PMID 19056803. 
• "Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.". Brain Dev. 32 (3): 236–43. 2010. doi:10.1016/j.braindev.2009.03.013. PMID 19423250. 
• "GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.". Neurology 70 (10): 748–54. 2008. doi:10.1212/01.wnl.0000284828.84464.35. PMID 18094336. 
• "Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.". Mol. Cell. Neurosci. 34 (4): 629–41. 2007. doi:10.1016/j.mcn.2007.01.010. PMID 17344063. 
• "Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease.". Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (2): 226–32. 2009. doi:10.1002/ajmg.b.30792. PMID 18521858. 
• "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.". Neurogenetics 8 (1): 39–44. 2007. doi:10.1007/s10048-006-0062-0. PMID 16969684. 
• "[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype].". Rinsho Shinkeigaku 50 (1): 7–11. 2010. doi:10.5692/clinicalneurol.50.7. PMID 20120347. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.