EDA : ectodysplasin A

Description

The EDA (ectodysplasin A) is a protein-coding gene located on chromosome X.

The EDA gene provides instructions for producing a protein called ectodysplasin A. This protein is essential for a signaling pathway crucial for embryonic development, particularly interactions between the ectoderm and mesoderm, two embryonic cell layers that form the foundation for various organs and tissues. These interactions are vital for the development of ectodermal structures, including skin, hair, nails, teeth, and sweat glands. One version of ectodysplasin A, known as ectodysplasin A1, interacts with a protein called the ectodysplasin A receptor (produced from the EDAR gene). Ectodysplasin A1 binds to this receptor like a key in a lock, triggering chemical signals that regulate cell division, growth, and maturation. This signaling pathway governs the formation of hair follicles, sweat glands, and teeth, starting before birth.

Ectodysplasin-A, also known as Ectodermal dysplasia protein, is a cytokine that plays a crucial role in communication between epithelial and mesenchymal cells during the development of ectodermal organs. It acts as a ligand that activates the EDAR and EDA2R receptors, both containing death domains, triggering a signaling cascade that influences cell behavior. Evidence suggests that Ectodysplasin-A might also contribute to cell adhesion. Notably, specific isoforms exhibit different binding preferences: while Ectodysplasin-A binds only to EDAR, isoform 3 exclusively binds to EDA2R.

EDA is also known as ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, TNLG7C, XHED, XLHED.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing