ECTODYSPLASIN-A1 Antibody – Mouse Monoclonal

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, Jul 2008]

EDA: Seems to be involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Isoform 1 binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor XEDAR. Defects in EDA are the cause of ectodermal dysplasia type 1 (ED1); also known as Christ-Siemens-Touraine syndrome or X-linked hypohidrotic ectodermal dysplasia (XLHED). Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ED1 is a disease characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. ED1 is the most common form of over 150 clinically distinct ectodermal dysplasias. Defects in EDA are the cause of tooth agenesis selective X-linked type 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). Belongs to the tumor necrosis factor family. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis; Receptor, misc.

Chromosomal Location of Human Ortholog: Xq12-q13.1

Cellular Component: apical part of cell; collagen; cytoskeleton; endoplasmic reticulum membrane; extracellular region; integral to membrane; integral to plasma membrane; intracellular membrane-bound organelle; membrane; plasma membrane

Molecular Function: protein binding; receptor binding; tumor necrosis factor receptor binding

Biological Process: activation of NF-kappaB transcription factor; cell differentiation; cell-matrix adhesion; ectoderm development; gene expression; immune response; odontogenesis of dentine-containing teeth; pigmentation; positive regulation of NF-kappaB import into nucleus; signal transduction; tumor necrosis factor-mediated signaling pathway

Disease: Ectodermal Dysplasia 1, Hypohidrotic, X-linked; Tooth Agenesis, Selective, X-linked, 1