Recombinant Human Gap junction beta-1 protein (GJB1), Truncated

Uniprot Id

P08034

Target Species

Human

Target Name

GJB1

Target Full Name

Gap junction beta-1 protein

Target 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.

Target Involvement

Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1); Dejerine-Sottas syndrome (DSS)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Target Protein Families

Connexin family, Beta-type (group I) subfamily

Target Synonyms

GJB1; CX32; Gap junction beta-1 protein; Connexin-32; Cx32; GAP junction 28 kDa liver protein

Target Background

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.