Ectodysplasin A (EDA) is a protein produced in humans by the EDA gene. Ectodysplasin A is a transmembrane protein of the TNF family that assumes an important role in the human production of ectodermal tissues including the skin [1,2]. It is identified by the receptor for ectodysplasin A [3-5].

The protein generated by this gene, which can be produced by furin to produce a stored shape, is a type II membrane protein [3,6,7]. The expressed protein, which relates to the tumor necrosis factors family, acts as a homotrimer and may even be involved in signal transduction during the development of ectodermal organs. The distinction of anatomical placodes, components of scales, feathers and hair follicles in vertebrates was shown to be related in accordance to c-Met [8]. Anhidrotic ectodermal dysplasia seems to be the origin of mutations in this gene, which is sometimes identified as X-linked hypohidrotic ectodermal dysplasia (HED). For this gene, multiple transcript variants have been identified that encode various different isoforms [9-11].

References

1. Kere J., et al. “X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein”. Nature Genetics 4 (1996): 409-416.
2. Wang X., et al. “A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia”. Medicine11 (2020): e19244.
3. Elomaa O., et al. “Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein”. Human Molecular Genetics 9 (2001): 953-962.
4. Li M., et al. “Knockdown of ectodysplasin-A receptor-associated adaptor protein exerts a tumor-suppressive effect in tongue squamous cell carcinoma cells”. Experimental and Therapeutic Medicine 5 (2020): 3337-3347.
5. Schuepbach-Mallepell S., et al. “Methods for the Administration of EDAR Pathway Modulators in Mice”. Methods in Molecular Biology 2248 (2021): 167-183.
6. Schneider P., et al. “Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A”. Journal of Biological Chemistry 22 (2001): 18819-18827.
7. Chen Y., et al. “Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia”. Proceedings of the National Academy of Sciences of the United States of America 13 (2001): 7218-7223.
8. Barrow-McGee R., et al. “Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes [published correction appears in”. Nature Communications 7 (2016): 12392.
9. Wang B., et al. “Ectodysplasin A receptor (EDAR) promotes colorectal cancer cell proliferation via regulation of the Wnt/β-catenin signaling pathway”. Experimental Cell Research 1 (2020): 112170.
10. Wohlfart S., et al. “Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study”. Orphanet Journal of Rare Diseases 1 (2020): 7.
11. Al-Ani AH., et al. “Common variants of EDA are associated with non-syndromic hypodontia”. Orthodontic and Craniofacial Clinical and Translational Research 1 (2021): 155-163.
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14. Awazawa M., et al. “A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle”. Nature Medicine 12 (2017): 1466-1473.
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