Bio Background |
GJC2 is a gap junction protein. Gap junctionproteins are members of a large family of homologous connexins andcomprise 4 transmembrane, 2 extracellular, and 3 cytoplasmicdomains. This gene plays a key role in central myelination and isinvolved in peripheral myelination in humans. Defects in this geneare the cause of autosomal recessive Pelizaeus-Merzbacher-likedisease-1. |
Bio References |
Ferrell, R.E., et al. Am. J. Hum. Genet. 86(6):943-948(2010)Wang, J., et al. Brain Dev. 32(3):236-243(2010)Ishikawa, T., et al. Rinsho Shinkeigaku 50(1):7-11(2010)Ruf, N., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 150B (2), 226-232 (2009) :Orthmann-Murphy, J.L., et al. Brain 132 (PT 2), 426-438 (2009) : |
Predicted |
B, C, Ha, Zf, M, Pig, Rat, X |