About EDA / Ectodysplasin:
Ectodysplasin Protein (EDA) is a type II transmembrane protein, including a C-Terminal tumor necrosis factor (TNF). It also possesses a furin site and a collagen-like sequence in the link between the transmembrane helix and the TNF domain. EDA-A1 and EDA-A2 are the common isoforms; EDA-A1 binds with the Ectodysplasin-A Receptor (EDAR), while EDA-A2 binds with X-linked Ectodysplasin-A Receptor (XEDAR).
EDA interacts with a protein known as the Ectodysplasin-A Receptor (EDAR), with EDA attaching to it like a key in a lock. Their connection activates a series of chemical signals that impact cell activities such as cell growth, maturation, and division. This signaling pathway regulates the teeth, hair follicles, sweat glands, and several ectodermal formations.
EDA is created from the EDA gene’s instruction and plays a significant role in development before birth. It’s part of a signaling pathway and facilitates the interaction between two embryonic cell layers called the ectoderm and mesoderm. These layers are the foundation of the body's tissues and organs in the embryonic stage. They also play a pivotal role in skin, hair, teeth, sweat gland, nail development, and other ectodermal structures.
EDA and EDAR expression
EDA and EDAR express themselves in partially overlapping tissues in the skin and can interact with each other. During 20 weeks of gestation, EDA is expressed in the epidermis. EDAR, on the other hand, is limited to the periderm and is associated with the formation of epidermal appendages and epithelial thickening.
Consequences of EDA gene mutation
EDA gene mutations cause ectodermal dysplasia, which results in the abnormal formation of the hair, skin, teeth, nails, and sweat glands. It causes a reduced sweating ability, missing teeth, malformed teeth, and scanty scalp and body hair.