GJB1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolGJB1
Namegap junction protein beta 1
Typeprotein-coding
Sourcemygene

Summary

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. Alternativ

8Connections

This is an externally resolved entity

This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.