Connexin 47 Polyclonal Antibody

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.,