EDAR Antibody

The Ectodysplasin A Receptor (EDAR) is a protein encoded by the EDAR gene in humans. It is a cell surface receptor for ectodysplasin A (EDA), a member of the tumor necrosis factor (TNF) family of ligands. EDAR plays a crucial role in the development of ectodermal tissues such as skin, hair, nails, teeth, and sweat glands .

EDAR is structurally related to members of the TNF receptor superfamily. It is a transmembrane protein that binds specifically to the EDA-A1 isoform of ectodysplasin A. This binding results in the recruitment of the intracellular EDAR-associated death domain (EDARADD) adaptor protein and the activation of the NF-κB signaling pathway .

The EDA gene, located on the long arm of the X chromosome, encodes several splice variants, including EDA-A1 and EDA-A2. EDA-A1 binds to EDAR, while EDA-A2 binds to a different receptor known as EDA2R or X-linked ectodermal dysplasia receptor (XEDAR) .

EDAR and its ligand EDA are essential for the interaction between the ectoderm and mesoderm during embryonic development. These interactions are critical for the proper formation of several structures derived from the ectoderm, including the skin, hair, nails, teeth, and sweat glands . Mutations in the EDAR gene can lead to hypohidrotic ectodermal dysplasia, a disorder characterized by a lower density of sweat glands, sparse hair, and missing teeth .

Mutations in the EDAR gene have been associated with various developmental disorders. For instance, hypohidrotic ectodermal dysplasia is caused by inactivation mutations in the EDA gene or its receptors, leading to symptoms such as oligotrichosis (sparse hair), edentulosis or oligodontia (missing teeth), and oligohidrosis or anhidrosis (reduced or absent sweating) .

Additionally, the EDAR variant 370A, a derived G-allele point mutation, has been linked to several traits, including greater hair shaft diameter, more numerous sweat glands, and increased mammary gland density. This variant is most common in East Asian populations and is believed to have arisen around 35,000 years ago in central China .

Recent research has explored the role of EDAR and its ligands in various diseases and conditions. For example, EDA levels have been observed to be upregulated in metabolic diseases such as non-alcoholic fatty liver disease (NAFLD), obesity, and insulin resistance . Furthermore, EDA and its receptors have been implicated in tumor pathogenesis through the regulation of tumor cell proliferation, apoptosis, differentiation, and migration .

In experimental settings, the use of mouse models has provided valuable insights into the function of EDAR. For instance, studies have shown that prenatal correction of EDAR signaling in mice can prevent conditions such as otitis media, rhinitis, and nasopharyngitis .