GJC1
Description
The GJC1 (gap junction protein gamma 1) is a protein-coding gene located on chromosome 17.
The GJC1 gene encodes for the gap junction gamma-1 protein, also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45). This protein is a member of the connexin gene family and plays a crucial role in forming gap junctions. Gap junctions are composed of arrays of intercellular channels that allow the passage of small molecules between cells. The GJC1 gene has been shown to have alternative spliced transcript variants encoding the same isoform.
Gap junctions are formed by clusters of closely packed pairs of transmembrane channels, known as connexons. These connexons allow the diffusion of low molecular weight materials between neighboring cells.
GJC1 is also known as CX45, GJA7.
Associated Diseases
- left ventricular noncompaction
- dilated cardiomyopathy 1AA
- left ventricular noncompaction 10
- hypertrophic cardiomyopathy 6
- sick sinus syndrome 2, autosomal dominant
- atrial standstill
- dilated cardiomyopathy 1E
- dilated cardiomyopathy 1I
- cardiomyopathy, dilated, 2G
