GJB1 : gap junction protein beta 1
Description
The GJB1 (gap junction protein beta 1) is a protein-coding gene located on chromosome X.
The GJB1 gene provides instructions for making connexin-32 protein, a key component of gap junctions. Gap junctions allow cells to communicate by forming channels for the transport of nutrients, ions, and small signaling molecules. Connexin-32 is found in various tissues, including the liver, pancreas, kidney, and nervous system. Within the nervous system, it's present in Schwann cells and oligodendrocytes, which produce myelin, a fatty substance that insulates nerve cells and facilitates rapid nerve impulse transmission. Connexin-32 helps maintain myelin's integrity and promotes efficient communication between the myelin layers and the supporting cells.
Gap junctions are formed by clusters of closely packed pairs of transmembrane channels called connexons. These channels allow the diffusion of small molecules between neighboring cells.
GJB1 is also known as CMTX, CMTX1, CX32.
Associated Diseases
- X-linked Charcot-Marie-Tooth disease type 1
- Charcot-Marie-Tooth neuropathy, X-linked dominant, 1
- X-linked progressive cerebellar ataxia
- Charcot-Marie-Tooth disease
