EDARADD

EDARADD (EDAR-associated death domain) is a protein that in humans is encoded by the EDARADD gene. This protein is a key player in the ectodysplasin pathway, which is critical for the development of hair follicles, sweat glands, and other ectodermal derivatives.

Function

The EDARADD protein is a death domain-containing adapter protein that interacts with the death domain of the tumor necrosis factor receptor, EDAR. This interaction triggers a signaling cascade that leads to the activation of nuclear factor kappa B (NF-κB), a transcription factor that regulates genes involved in cell survival, inflammation, and immune responses.

Clinical significance

Mutations in the EDARADD gene can cause hypohidrotic ectodermal dysplasia (HED), a genetic disorder characterized by sparse hair, missing teeth, and inability to sweat. HED can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific gene involved.

See also

• EDAR (gene)
• Ectodysplasin A
• Ectodermal dysplasia

External links

• GeneCards: EDARADD