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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