EDARADD : EDAR associated via death domain
Description
The EDARADD (EDAR associated via death domain) is a protein-coding gene located on chromosome 1.
The EDARADD gene provides instructions for producing a protein called the EDAR-associated via death domain (EDARADD) protein. This protein is a crucial part of a signaling pathway that plays a vital role in development before birth. It is particularly important for interactions between two embryonic cell layers, the ectoderm and the mesoderm, which form the foundation for many of the body's organs and tissues. These interactions are essential for the development of structures arising from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. The EDARADD protein interacts with another protein, the ectodysplasin A receptor, produced by the EDAR gene. This interaction occurs at a region called the death domain, present in both proteins. The EDARADD protein acts as an adapter, assisting the ectodysplasin A receptor in triggering chemical signals within cells. These signals affect cell activities like division, growth, and maturation. Starting before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.
EDARADD is also known as CR, ECTD11A, ECTD11B, ED3, EDA3.
Associated Diseases
- Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
- Oligodontia
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
- Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- Hypohidrotic ectodermal dysplasia