GJA10
Description
The GJA10 (gap junction protein alpha 10) is a protein-coding gene located on chromosome 6.
The GJA10 gene encodes the gap junction alpha-10 protein, also known as connexin-62 (Cx62). Connexins, such as GJA10, form gap junctions, channels that connect the cytoplasm of adjacent cells. Each gap junction is formed by two hemichannels, each composed of six connexin subunits.
Gap junctions, formed by clusters of connexons, allow the passage of small molecules between adjacent cells. GJA10 plays a role in connecting horizontal cells in the retina, facilitating communication and potentially influencing their organization.
GJA10 is also known as CX62.
Associated Diseases
- retinitis pigmentosa
- Stargardt disease
- Leber congenital amaurosis
- X-linked retinal dysplasia
- progressive bifocal chorioretinal atrophy
- central areolar choroidal dystrophy
- 46,XX testicular disorder of sex development
- 46,XY complete gonadal dysgenesis
- isolated congenital hypogonadotropic hypogonadism
