GJC2, Official Symbol GJC2provided by HGNC Official Full Name gap junction protein gamma 2provided by HGNC Primary source HGNC:HGNC:17494 See related Ensembl:ENSG00000198835 MIM:608803; AllianceGenome:HGNC:17494 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR Summary 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] Expression Broad expression in brain (RPKM 4.2), endometrium (RPKM 1.5) and 19 other tissues See more Orthologs mouse all