EDAR

EDAR (Ectodysplasin A receptor) is a protein that in humans is encoded by the EDAR gene. It has a significant role in the development of ectodermal tissues such as the skin. Mutations in this gene are known to cause Hypohidrotic ectodermal dysplasia, a genetic disorder characterized by a reduced ability to sweat, sparse hair growth, and missing teeth.

Function

EDAR is a cell surface receptor for ectodysplasin A which plays a crucial role in the development of ectodermal tissues including the skin. It is a single-pass type II membrane protein that is a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and JNK signaling pathways through its interaction with ectodysplasin A.

Clinical significance

Mutations in the EDAR gene can cause hypohidrotic ectodermal dysplasia (HED), a genetic disorder characterized by a reduced ability to sweat (hypohidrosis), sparse hair growth (hypotrichosis), and missing teeth (hypodontia). This condition is also known as Christ-Siemens-Touraine syndrome.

See also

• Ectodysplasin A
• Tumor necrosis factor receptor
• Nuclear factor kappa-B
• JNK
• Hypohidrotic ectodermal dysplasia
• Christ-Siemens-Touraine syndrome

External links

• EDAR at the National Center for Biotechnology Information

EDAR Resources
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