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. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.
GJC2; gap junction protein, gamma 2, 47kDa; gap junction protein, alpha 12, 47kDa , GJA12; gap junction gamma-2 protein; connexin 47; CX46.6; CX47; SPG44; B230382L12Rik; Connexin 46.6; Connexin-46.6; Connexin-47; Connexin46.6; Connexin47; CX 46.6; Cx 47; CXG2_HUMAN; Gap junction alpha 12 protein; Gap junction alpha-12 protein; Gap junction gamma 2 protein; Gap junction protein alpha 12 47kDa; Gap junction protein gamma 2 47kDa; GAP JUNCTION PROTEIN, 47-KD; gap junction protein, gamma 12, 47kDa; GJA 12; GJA12; GJC 2; HLD 2; HLD2; MGC105119; MGC130506; OTTHUMP00000037763; PMLDAR; LMPH1C