Biology:Ectodysplasin A
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Short description: Protein-coding gene in humans
 Generic protein structure example |
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.[1][2] It is recognized by the ectodysplasin A receptor.
Function
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. Along with c-Met, it has been shown to be involved in the differentiation of anatomical placodes, precursors of scales, feathers and hair follicles in vertebrates.[3] 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.[2] At least 61 disease-causing mutations in this gene have been discovered.[4]
References
- ↑ "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein". Nat Genet 13 (4): 409–16. Sep 1996. doi:10.1038/ng0895-409. PMID 8696334.
- ↑ 2.0 2.1 "Entrez Gene: EDA ectodysplasin A". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1896.
- ↑ "Beta 1-integrin-c-Met cooperation reveals an inside-in survival signalling on autophagy-related endomembranes". Nature Communications 7. 2016. doi:10.1038/ncomms11942. PMID 27336951. Bibcode: 2016NatCo...711942B.
- ↑ "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports 9 (1). December 2019. doi:10.1038/s41598-019-54976-4. PMID 31819097. Bibcode: 2019NatSR...918577S.
Further reading
- "EDA signaling and skin appendage development". Cell Cycle 5 (21): 2477–83. 2007. doi:10.4161/cc.5.21.3403. PMID 17102627.
- "Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed". Am. J. Hum. Genet. 58 (1): 126–32. 1996. PMID 8554048.
- "The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone". J. Histochem. Cytochem. 46 (3): 281–9. 1998. doi:10.1177/002215549804600301. PMID 9487109.
- "Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications". J. Med. Genet. 35 (2): 112–5. 1998. doi:10.1136/jmg.35.2.112. PMID 9507389.
- "A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia". Clin. Genet. 53 (3): 205–9. 1998. doi:10.1111/j.1399-0004.1998.tb02678.x. PMID 9630076.
- "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations". Am. J. Hum. Genet. 63 (2): 380–9. 1998. doi:10.1086/301984. PMID 9683615.
- "The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats". Hum. Mol. Genet. 7 (11): 1661–9. 1998. doi:10.1093/hmg/7.11.1661. PMID 9736768.
- "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)". J. Invest. Dermatol. 113 (2): 285–6. 1999. doi:10.1046/j.1523-1747.1999.00656.x. PMID 10469321.
- "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells". Hum. Mol. Genet. 8 (11): 2079–86. 1999. doi:10.1093/hmg/8.11.2079. PMID 10484778.
- "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science 290 (5491): 523–7. 2000. doi:10.1126/science.290.5491.523. PMID 11039935. Bibcode: 2000Sci...290..523Y.
- "Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24". Anim. Genet. 31 (6): 416. 2001. doi:10.1046/j.1365-2052.2000.00693.x. PMID 11167539.
- "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein". Hum. Mol. Genet. 10 (9): 953–62. 2001. doi:10.1093/hmg/10.9.953. PMID 11309369.
- "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia". Eur. J. Hum. Genet. 9 (5): 355–63. 2001. doi:10.1038/sj.ejhg.5200635. PMID 11378824.
- "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7218–23. 2001. doi:10.1073/pnas.131076098. PMID 11416205. Bibcode: 2001PNAS...98.7218C.
- "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". J. Biol. Chem. 277 (47): 44953–61. 2003. doi:10.1074/jbc.M207923200. PMID 12270937.
- "A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia". Acta Biochim. Pol. 50 (1): 255–8. 2003. doi:10.18388/abp.2003_3734. PMID 12673367.
- "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia". Arch. Dermatol. Res. 295 (1): 38–42. 2004. doi:10.1007/s00403-003-0394-7. PMID 12682853.
- "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia". Dermatology 207 (2): 178–81. 2004. doi:10.1159/000071790. PMID 12920369.
External links
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