2024年12月24日 · EDA (Ectodysplasin A) is a Protein Coding gene. Diseases associated with EDA include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Tooth Agenesis, Selective, X-Linked, 1. Among its related pathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and Cytokine Signaling in Immune system.

The EDA gene provides instructions for making a protein called ectodysplasin A. This protein is part of a signaling pathway that plays an important role in development before birth.

Ectodysplasin A (EDA) is a protein that in humans is encoded by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family which plays an important role in the development of ectodermal tissues such as skin in humans.

2003年4月28日 · EDA encodes ectodysplasin-A (EDA), a protein that is important for normal development of ectodermal appendages including hair, teeth, and sweat glands. EDA is important in the NFKappa B pathway, which involves numerous downstream genes involved in …

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.

2024年12月24日 · EDA2R (Ectodysplasin A2 Receptor) is a Protein Coding gene. Diseases associated with EDA2R include Ectodermal Dysplasia 1, Hypohidrotic, X-Linked and Ectodermal Dysplasia. Among its related pathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and Cytokine Signaling in Immune system.

Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm, which impairs the normal development of skin, hair, nails, teeth, and sweat glands. Mutations in any of these three genes lead to the major signs and symptoms of hypohidrotic ectodermal dysplasia described above.

The EDA gene (chromosome chrXq12–q13.1) encodes a trimeric transmembrane protein ligand (Eda), which is cleaved by furin to give a soluble and active secreted form that is capable of binding tumor necrosis factor (TNF) transmembrane receptor called ectodysplasin receptor (Edar, encoded by EDAR, located on chr2q11–q13).

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.

Prominently affected in human hair disorders is the EDA/EDAR pathway. Hypohidrotic Ectodermal Dysplasia (HED) was the first ectodermal dysplasia to be genetically characterized. Mutations in the EDA gene, located on the X chromosome and encoding the signaling molecule ectodysplasin-A, were first identified in an X-linked form of HED [29].

To identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA) (XHED; 305100), Srivastava et al. (1996) fine mapped the translocation breakpoint in an EDA patient with the translocation t(X;1)(q13.1;p36.3). They determined that the EDA candidate region contains 5 groups of rare-cutter restriction sites that define CpG islands.

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype.

2023年2月11日 · EDA is a tumor necrosis factor (TNF) family member, which functions together with its cognate receptor EDAR during ectodermal organ development. Mutations of EDA...

2022年8月10日 · Gene mutation in EDA signaling causes hypohidrotic ectodermal dysplasia (HED), a congenital hereditary disease with malformation of skin appendages. Interestingly, emerging evidence suggests that EDA and its receptors can modulate the proliferation, apoptosis, differentiation and migration of cancer cells, and thus may regulate tumorigenesis ...

2009年7月22日 · Almost a hundred different EDA gene mutations have been identified in patients with the HED syndrome. These mutations range from exon deletions and frameshifts to conservative replacements of ...

2002年2月20日 · Anhidrotic ectodermal dysplasia (EDA; Online Mendelian Inheritance in Man, 2000: 305100) is a recessive X-linked genetic disorder caused by lesions in the EDA gene and characterized morphologically by rudimentary teeth, sparse …

2025年2月8日 · Eda initiates a signaling cascade and recruits a BAF complex to specific gene loci to facilitate transcription during organogenesis. Gain- and loss-of-function approaches reveal that liver-derived EDA regulates systemic glucose metabolism, suggesting that EDA is a hepatokine that can contribute to impaired skeletal muscle insulin sensitivity in ...

The EDA (ectodysplasin A) is a protein-coding gene located on chromosome X. The EDA gene provides instructions for producing a protein called ectodysplasin A. This protein is essential for a signaling pathway crucial for embryonic development, particularly interactions between the ectoderm and mesoderm, two embryonic cell layers that form the ...

2013年6月3日 · 摘要： Ectodysplasin-A(Eda)基因在皮肤附属物的发育中具有重要的生物学功能。利用Genfishing差异筛选技术对普通鲤鱼和德国镜鲤的皮肤转录表达产物进行筛选，得到Eda基因的部分片段。然后利用实验室的鲤鱼EST数据库设计包含CDS全长的特异引物。

2025年2月27日 · Increase of EDA2R is reinforced by elevation of EDA-A2 in aging-associated comorbidities. Credit: Nature Communications (2025). DOI: 10.1038/s41467-025-56918-3