GJA8
Description
The GJA8 (gap junction protein alpha 8) is a protein-coding gene located on chromosome 1.
GJA8 is a human gene that encodes the gap junction alpha-8 protein, also known as connexin 50. It is involved in several gene problems including 1q21.1 deletion syndrome, 1q21.1 duplication syndrome, microphthalmia and other vision pathologies. GJA8 interacts with Tight junction protein 1.
GJA8 forms gap junctions, which are channels that connect the cytoplasm of adjacent cells. These channels are composed of two hexameric hemichannels, one from each cell membrane, and allow for the diffusion of small molecules and ions between cells. GJA8 is known to interact with GJA3 to form heteromeric channels.
GJA8 is also known as CAE, CAE1, CTRCT1, CX50, CZP1, MP70.
