Tuesday, November 25, 2014

Ectodysplasin A Gene



      Ectodysplasin A Gene (EDA)

EDA gene: making a protein called ectodysplasin A.

Ectodysplasin A protein: part of a signaling pathway that plays an important role in    interactions between ectoderm and the mesoderm.

Ectoderm-mesoderm interactions are essential for the formation of several structures that  arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands.

The EDA gene: produce many different versions of ectodysplasin A.

One kind of that is ectodysplasin A1 interacts with a protein called the ectodysplasin A receptor (produced from the EDAR gene). On the cell surface, ectodysplasin A1 attaches to receptor like a key in a lock, and they trigger a series of chemical signals that affect cell activities such as division, growth, and maturation.

Before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth.

Mutations in the EDA gene:  Hypohidrotic ectodermal dysplasia

More than 80 different mutations in the EDA gene have been found. These mutations cause the X-linked form of the disorder, which accounts for 95 percent of all cases of hypohidrotic ectodermal dysplasia.

Some mutations in the EDA gene change single base pairs, while other mutations insert or delete nucleotides in the gene. These changes lead to the production of a nonfunctional version of the ectodysplasin A protein. This abnormal protein cannot trigger chemical signals needed for normal interactions between the ectoderm and the mesoderm. Without these signals, hair follicles, teeth, sweat glands, and other ectodermal structures do not form properly, leading to the characteristic features of hypohidrotic ectodermal dysplasia.


http://www.cell.com/fulltext/S0092-8674(13)00131-1
http://ghr.nlm.nih.gov/gene/EDA
http://en.wikipedia.org/wiki/Ectodysplasin_A2_receptor

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