GJD2

Description

The GJD2 (gap junction protein delta 2) is a protein-coding gene located on chromosome 15.

The GJD2 gene encodes the Gap junction delta-2 protein, also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9). This protein is primarily found in mammalian neurons. Connexins group together in sets of six, forming connexons that surround a central pore. Two connexons from neighboring cells join to form a gap junction intercellular channel.

Gap junctions are clusters of closely packed pairs of transmembrane channels, known as connexons. These connexons allow for the diffusion of small molecules between adjacent cells.

GJD2 is also known as CX36, GJA9.

Associated Diseases

• refractive error
• hyperopia
• myopia
• exercise-induced hyperinsulinism
• hyperinsulinemic hypoglycemia, familial, 2
• type 2 diabetes mellitus
• GCGR-related hyperglucagonemia
• hyperinsulinemic hypoglycemia, familial, 1
• type 1 diabetes mellitus