connexin-32; gap junction protein beta-1 (CX32, GJB1)

Function

• a 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
• a connexon is composed of a hexamer of connexins
• interacts with CNST (putative)

Structure

• belongs to the connexin family, beta-type (group I) subfamily

Compartment

• cell membrane; multi-pass membrane protein
• cell junction, gap junction

Pathology

• defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1
• defects in GJB1 are Dejerine-Sottas syndrome

Laboratory

• GJB1 genotyping

More general terms

• connexin (gap-junction protein)

Database

• UniProt: http://www.uniprot.org/uniprot/P08034.html
• OMIM: https://mirror.omim.org/entry/304040