Ectodysplasins
Transmembrane proteins belonging to the tumor necrosis factor superfamily that play an essential role in the normal development of several ectodermally derived organs. Several isoforms of the ectodysplasins exist due to multiple ALTERNATIVE SPLICING of the MRNA for the protein. The isoforms ectodysplasin A1 and ectodysplasin A2 are considered biologically active and each bind distinct ECTODYSPLASIN RECEPTORS. Genetic mutations that result in loss of function of ectodysplasin result in ECTODERMAL DYSPLASIA 1, ANHIDROTIC.
Year introduced: 2007(1999)
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Subheadings:
Tree Number(s): D09.400.430.890.275, D12.644.276.374.750.186, D12.776.395.550.275, D12.776.467.374.750.186, D12.776.543.550.275, D23.529.374.750.186
MeSH Unique ID: D053331
Entry Terms:
- Ectodysplasin-A
- Ectodysplasin A
- Ectodysplasin
- Ectodysplasin A, Isoform 2
- Ectodysplasin A2
- Ectodysplasin A, Isoform 1
- Ectodysplasin A1
See Also: