- Concept UI
- M0284074
- Registry Numbers
- 0
- Scope Note
- 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.
- Terms
-
Ectodysplasins
Preferred Term
Term UI
T661745
Date12/07/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Ectodysplasin
Term UI
T314079
Date01/01/1955
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Ectodysplasin-A
Term UI
T661891
Date12/09/2005
LexicalTag
NON
ThesaurusID
NLM (2007)