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Descriptor English: Ectodysplasins
Descriptor Spanish: Ectodisplasinas
Descriptor ectodisplasinas
Scope note: Proteínas transmembranarias que pertenecen a la superfamilia del factor de necrosis tumoral. Desempeñan un papel esencial en el desarrollo normal de varios órganos de origen ectodérmico. Hay varias isoformas de ectodisplasinas debido al EMPALME ALTERNATIVO múltiple del ARNm para la proteína. Se considera que las isoformas ectodisplasina A1 y ectodisplasina A2 son biológicamente activas y cada una de ellas se une de modo distinto a los RECEPTORES DE ECTODISPLASINAS. Las mutaciones genéticas que llevan a la pérdida de función de la ectodisplasina dan lugar a la DISPLASIA ECTODÉRMICA 1 ANHIDRÓTICA.
Descriptor Portuguese: Ectodisplasinas
Descriptor French: Ectodysplasines
Entry term(s): Ectodysplasin
Ectodysplasin A
Ectodysplasin A, Isoform 1
Ectodysplasin A, Isoform 2
Ectodysplasin A1
Ectodysplasin A2
Ectodysplasin-A
Tree number(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D053331
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.
Allowable Qualifiers: AD administration & dosage
AE adverse effects
AG agonists
AI antagonists & inhibitors
AN analysis
BI biosynthesis
BL blood
CF cerebrospinal fluid
CH chemistry
CL classification
CS chemical synthesis
DE drug effects
DF deficiency
EC economics
GE genetics
HI history
IM immunology
IP isolation & purification
ME metabolism
PD pharmacology
PH physiology
PK pharmacokinetics
PO poisoning
RE radiation effects
SD supply & distribution
ST standards
TO toxicity
TU therapeutic use
UL ultrastructure
UR urine
Public MeSH Note: 2007; ECTODYSPLASINS was indexed under MEMBRANE PROTEINS & TUMOR NECROSIS FACTORS 1998-2006
History Note: 2007(1999)
Related: Ectodermal Dysplasia 1, Anhidrotic MeSH
DeCS ID: 52292
Unique ID: D053331
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2007/01/01
Date of Entry: 2006/07/05
Revision Date: 2015/06/22
Ectodysplasins - Preferred
Concept UI M0284074
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.
Preferred term Ectodysplasins
Entry term(s) Ectodysplasin
Ectodysplasin A
Ectodysplasin-A
Ectodysplasin A, Isoform 2 - Narrower
Concept UI M0492660
Scope note An ectodysplasin isoform with specificity for the XEDAR RECEPTOR.
Preferred term Ectodysplasin A, Isoform 2
Entry term(s) Ectodysplasin A2
Ectodysplasin A, Isoform 1 - Narrower
Concept UI M0492659
Scope note An ectodysplasin isoform with specificity for the EDAR RECEPTOR.
Preferred term Ectodysplasin A, Isoform 1
Entry term(s) Ectodysplasin A1



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