| Gene Symbol |
GJC2
|
| Gene Synonyms |
CXG2 Cx47 HLD2 GJA12 SPG44 CX46.6 LMPH1C LMPHM3 PMLDAR Connexin 47 |
| Gene Full Name |
gap junction protein gamma 2 |
| Gene 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. |
| Molecular Weight(MW) |
47 kDa |
| Cellular Localization |
Cell junction, Cell membrane, Gap junction, Membrane |