Description
Product Characteristics: This gene encodes for a Connexin 32 protein. A large Charcot-Marie-Tooth disease family has been identified with a novel mutation in the Cx32 P2 promoter region at position -526bp. Cx32 mutants that are associated with a CNS phenotype may have toxic effects in oligodendrocytes.
Target Information: This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]