GJA5

Description

The GJA5 (gap junction protein alpha 5) is a protein-coding gene located on chromosome 1.

The GJA5 gene encodes for the gap junction alpha-5 protein, also known as connexin 40 (Cx40). This protein is a member of the connexin gene family and plays a crucial role in the formation of gap junctions. Gap junctions are intercellular channels that allow the diffusion of small molecules between cells. Mutations in the GJA5 gene have been linked to atrial fibrillation. Different transcript variants of GJA5 have been identified, all encoding the same protein isoform. The GJA5 gene is located on chromosome 1q21.1. Duplications of the GJA5 gene are associated with an increased risk of tetralogy of Fallot, while deletions are linked to other congenital heart defects.

GJA5 is also known as ATFB11, CX40.

Associated Diseases

• Tetralogy of Fallot
• Atrial standstill 1
• Atrial fibrillation, familial, 11
• Familial atrial fibrillation
• Chromosome 1q21.1 deletion syndrome, 1.35-mb