GJA1 : gap junction protein alpha 1
Description
The GJA1 (gap junction protein alpha 1) is a protein-coding gene located on chromosome 6.
The GJA1 gene provides instructions for making a protein called connexin 43, which is one of 21 connexin proteins. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. In addition, connexin 43 attaches (binds) several signaling molecules that can relay communication signals inside the cell. Connexin 43 is found in many tissues such as the eyes, skin, bone, ears, heart, and brain, and it plays a role in their normal development and function.
GJA1 encodes a protein, Connexin-43, that forms gap junctions between cells, allowing the passage of small molecules and electrical signals. Connexin-43 plays a crucial role in regulating bladder capacity by enhancing intercellular communication, leading to increased sensitivity of bladder muscles to nerve signals. It is also involved in hearing by participating in potassium recycling in the inner ear. Additionally, Connexin-43 may contribute to cell growth inhibition by regulating the expression and localization of NOV protein. It is essential for gap junction communication in the ventricles of the heart.
GJA1 is also known as AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA.
Associated Diseases
- Erythrokeratodermia variabilis et progressiva 3
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Oculodentodigital dysplasia
- Syndactyly, type III
- Craniometaphyseal dysplasia, autosomal recessive
- Craniometaphyseal dysplasia
- Palmoplantar keratoderma with congenital alopecia
- Erythrokeratodermia variabilis
- Hypoplastic left heart syndrome
- Syndactyly type 3
- Oculodentodigital dysplasia, autosomal recessive
- Nonsyndromic hearing loss
- Coloboma
- Critical congenital heart disease
- Erythrokeratodermia variabilis et progressiva
- Heterotaxy syndrome
