| Gene Symbol | GJB1 |
| Full Name | Gap Junction Protein Beta 1 |
| Chromosome | Xq13.1 |
| Function | The GJB1 gene encodes Connexin 32, a gap junction protein critical for communication between Schwann cells in the peripheral nervous system. |
| Primary Expression | Peripheral nervous system, Schwann cells, Nodes of Ranvier |
| UniProt ID | P29508 |
| NCBI Gene ID | 2700 |
| Ensembl ID | ENSG00000187048 |
| OMIM | 304040 |
| GeneCards | GJB1 |
| Human Protein Atlas | GJB1 |
| Four Transmembrane Domains | Alpha-helical segments spanning the membrane |
| Two Extracellular Loops | Mediate docking with adjacent cell gap junctions |
| Cytoplasmic Loops | N-terminal and C-terminal domains in the cytoplasm |
| Molecular weight | Approximately 32 kDa |
| Associated Diseases | Charcot-Marie-Tooth Disease |
| KG Connections | 8 knowledge graph edges |
| Databases | GeneCardsHPASTRING |
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