靶标:
GJC2
产品别名:
CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3; PMLDAR; SPG44; GJC2; gap junction protein gamma 2; gap junction protein gamma 2; gap junction gamma-2 protein; connexin-46.6; connexin-47; gap junction alpha-12 protein; gap junction protein, gamma 2, 47kDa; 间隙连接蛋白47;
背景信息:
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. [provided by RefSeq, Jul 2008],