GJC2

GJC2 is a gene that encodes for the protein gap junction gamma-2, also known as connexin 47. This protein is a member of the connexin family and plays a crucial role in the formation of gap junctions, which are intercellular channels that allow for direct communication between the cytoplasm of adjacent cells.

Function[edit | edit source]

The GJC2 gene is primarily expressed in the central nervous system, specifically in the oligodendrocytes, which are a type of glial cell. The protein it encodes, connexin 47, forms gap junctions with another protein, connexin 43, which is encoded by the GJA1 gene. These gap junctions are essential for the maintenance of myelin, a fatty substance that insulates nerve fibers and ensures the rapid transmission of electrical signals in the nervous system.

Clinical significance[edit | edit source]

Mutations in the GJC2 gene have been associated with a rare neurological disorder known as Pelizaeus-Merzbacher-like disease (PMLD). This condition is characterized by a lack of myelin in certain areas of the nervous system, leading to symptoms such as nystagmus, spasticity, and developmental delay.

In addition, GJC2 mutations have also been linked to leukodystrophy, a group of disorders characterized by the progressive degeneration of white matter in the brain.