Ectodysplasin A (EDA) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the EDA
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Ectodysplasin A is a
transmembrane protein
A transmembrane protein is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane. They frequently un ...
of the
TNF family
The tumor necrosis factor (TNF) superfamily is a protein superfamily of type II transmembrane proteins containing TNF homology domain and forming trimers. Members of this superfamily can be released from the cell membrane by extracellular pr ...
which plays an important role in the development of
ectodermal tissues such as
skin
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.
Other animal coverings, such as the arthropod exoskeleton, have different ...
in humans.
It is recognized by the
ectodysplasin A receptor
Ectodysplasin A receptor (EDAR) is a protein that in humans is encoded by the ''EDAR'' gene. EDAR is a cell surface receptor for ectodysplasin A which plays an important role in the development of ectodermal tissues such as the skin. It is struc ...
.
Function
The protein encoded by this gene is a type II membrane protein that can be cleaved by
furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a
homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Along with
c-Met
Hepatocyte growth factor receptor (HGF receptor) is a protein that in humans is encoded by the ''MET'' gene. The protein possesses tyrosine kinase activity. The primary single chain precursor protein is post-translationally cleaved to produce t ...
, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in
vertebrates
Vertebrates () are animals with a vertebral column (backbone or spine), and a cranium, or skull. The vertebral column surrounds and protects the spinal cord, while the cranium protects the brain.
The vertebrates make up the subphylum Vertebra ...
.
Defects in this gene are a cause of
ectodermal dysplasia
Ectodermal Dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate from the ectoderm, the outer layer of an embryo. These structures include hair, teeth ...
, anhidrotic, which is also known as X-linked
hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different
isoforms
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the result of genetic differences. While many perform the same or similar biological roles, some isoforms have uniqu ...
have been found for this gene.
At least 61 disease-causing mutations in this gene have been discovered.
References
Further reading
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External links
GeneReview/NIH/UW entry on Hypohidrotic Ectodermal Dysplasia
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