GJC2, GJA12, Gap junction gamma-2 protein, Connexin-46.6, Cx46.6, Connexin-47, Cx47, Gap junction alpha-12 protein
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],caution:It is uncertain whether Met-1 or Met-4 is the initiator.,disease:Defects in GJC2 are the cause of Leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804], also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity.,function:One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems.,similarity:Belongs to the connexin family. Gamma-type subfamily.,subunit:A connexon is composed of a hexamer of connexins. Interacts with TJP1.,tissue specificity:Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.,
