GJA4
Description
The GJA4 (gap junction protein alpha 4) is a protein-coding gene located on chromosome 1.
Gap junction alpha-4 protein, also known as Connexin-37 or Cx37, is a protein that in humans is encoded by the GJA4 gene. This protein, like other Connexin proteins, forms connections between cells known as gap junctions. Connexin 37 can be found in many tissues including the ovary, heart, and kidney.
Gap junctions are formed by clusters of closely packed pairs of transmembrane channels called connexons. These connexons allow for the diffusion of small molecules between neighboring cells.
GJA4 is also known as CX37.
Associated Diseases
- skin hemangioma
- 46,XY complete gonadal dysgenesis
- female infertility due to oocyte meiotic arrest
- male infertility with teratozoospermia due to single gene mutation
- oocyte maturation defect 9
- premature ovarian failure 19
