EDA

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. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq]

Full Name

ectodysplasin A

Research Area

Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:8696334, PubMed:11039935, PubMed:27144394).

May also play a role in cell adhesion (By similarity).

Isoform 1:
Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R.

Isoform 3:
Binds only to the receptor EDA2R.

Biological Process

Animal organ development Source: GO_Central
Cell differentiation Source: UniProtKB-KW
Cell-matrix adhesion Source: Ensembl
Cytokine-mediated signaling pathway Source: UniProtKB
Gene expression Source: Ensembl
Hair follicle placode formation Source: Ensembl
Immune response Source: InterPro
Odontogenesis of dentin-containing tooth Source: UniProtKB
Pigmentation Source: Ensembl
Positive regulation of canonical Wnt signaling pathway Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: Ensembl
Positive regulation of NF-kappaB transcription factor activity Source: HGNC-UCL
Positive regulation of NIK/NF-kappaB signaling Source: Ensembl
Regulation of NIK/NF-kappaB signaling Source: UniProtKB
Salivary gland cavitation Source: Ensembl
Trachea gland development Source: Ensembl

Cellular Location

Cell membrane
Ectodysplasin-A, secreted form: Secreted

Involvement in disease

Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
Tooth agenesis, selective, X-linked, 1 (STHAGX1):
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).

Topology

Cytoplasmic: 1-41
Helical: 42-62
Extracellular: 63-391

PTM

N-glycosylated.
Processing by furin produces a secreted form.