Search on: ECTODYSPLASIN-A 
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Descriptor English:   Ectodysplasins 
Descriptor Spanish:   Ectodisplasinas 
Descriptor Portuguese:   Ectodisplasinas 
Synonyms English:   Ectodysplasin
Ectodysplasin A
Ectodysplasin A, Isoform 1
Ectodysplasin A, Isoform 2
Ectodysplasin A1
Ectodysplasin A2
Ectodysplasin-A  
Tree Number:   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
Definition English:   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. 
See Related English:   Ectodermal Dysplasia 1, Anhidrotic
 
History Note English:   2007(1999) 
Allowable Qualifiers English:  
AD administration & dosage AE adverse effects
AG agonists AN analysis
AI antagonists & inhibitors BI biosynthesis
BL blood CF cerebrospinal fluid
CS chemical synthesis CH chemistry
CL classification DF deficiency
DE drug effects EC economics
GE genetics HI history
IM immunology IP isolation & purification
ME metabolism PK pharmacokinetics
PD pharmacology PH physiology
PO poisoning RE radiation effects
ST standards SD supply & distribution
TU therapeutic use TO toxicity
UL ultrastructure UR urine
Record Number:   52292 
Unique Identifier:   D053331 

Occurrence in VHL:
 

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