{"symbol":"GJC2","synonyms":["CX47","GJA12","LMPH1C","SPG44","CX46.6","PMLDAR","HLD2"],"name":"gap junction protein, gamma 2, 47kDa","description":"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]","ncbiEntrezGeneId":57165,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/57165","proteins":[{"symbol":"CXG2_HUMAN","href":"/api/1.0/protein/CXG2_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}