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 GJC2gene.[5]
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.[5]
Clinical significance
Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.[5]
Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.
Wang J, Wang H, Wang Y, et al. (2010). "Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease". Brain Dev. 32 (3): 236–43. doi:10.1016/j.braindev.2009.03.013. PMID19423250. S2CID19215348.
Ruf N, Uhlenberg B (2009). "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. doi:10.1002/ajmg.b.30792. PMID18521858. S2CID40070741.
Wolf NI, Cundall M, Rutland P, et al. (2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination". Neurogenetics. 8 (1): 39–44. doi:10.1007/s10048-006-0062-0. PMID16969684. S2CID31979444.
Ishikawa T, Sato K, Shimazaki R, et al. (2010). "[A case of autosomal recessive hypomyelinating leukodystrophy without GJA12 mutation presenting a novel phenotype]". Rinsho Shinkeigaku. 50 (1): 7–11. doi:10.5692/clinicalneurol.50.7. PMID20120347.
