GJC2 : gap junction protein gamma 2

Description

The GJC2 (gap junction protein gamma 2) is a protein-coding gene located on chromosome 1.

The GJC2 gene provides instructions for making connexin-47, a protein involved in forming gap junctions between cells. Gap junctions allow for the transport of essential materials, such as nutrients and ions, between cells. Connexin-47 is primarily found in the central nervous system, specifically in oligodendrocytes, which are responsible for producing myelin, a protective sheath that insulates nerve fibers. The communication facilitated by connexin-47 through gap junctions is crucial for the formation and maintenance of myelin, ensuring efficient nerve impulse transmission.

Gap junctions are formed by clusters of closely packed channels called connexons. These connexons allow for the passage of small molecules between cells, facilitating communication and transport of essential materials.

GJC2 is also known as CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44.

Associated Diseases

• Milroy disease
• Spastic paraplegia 44, autosomal recessive
• Lymphatic malformation 3
• Autosomal recessive spastic paraplegia type 44
• Leukodystrophy, hypomyelinating, 2
• Pelizaeus-Merzbacher-like disease type 1