gene 740 words KG: GJB1 2026-03-24
kind:genesection:genesstate:published
Contents

GJB1 — Gap Junction Protein Beta 1

🧬 Gene Info
Gene SymbolGJB1
Full NameGap Junction Protein Beta 1
ChromosomeXq13.1
FunctionThe GJB1 gene encodes Connexin 32, a gap junction protein critical for communication between Schwann cells in the peripheral nervous system.
Primary ExpressionPeripheral nervous system, Schwann cells, Nodes of Ranvier
UniProt IDP29508
NCBI Gene ID2700
Ensembl IDENSG00000187048
OMIM304040
GeneCardsGJB1
Human Protein AtlasGJB1
Symbol [@omim] GJB1 [@uniprot] Full NameGap Junction Protein Beta 1 (Connexin 32)
Associated DiseasesCharcot-Marie-Tooth Disease
KG Connections8 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph