- EDA (gene)
Ectodysplasin A, also known as EDA, is a human
gene .cite web | title = Entrez Gene: EDA ectodysplasin A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1896| accessdate = ]PBB_Summary
section_title =
summary_text = 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-linkedhypohidrotic ectodermal dysplasia . Several transcript variants encoding many different isoforms have been found for this gene.cite web | title = Entrez Gene: EDA ectodysplasin A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1896| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Cui CY, Schlessinger D |title=EDA signaling and skin appendage development. |journal=Cell Cycle |volume=5 |issue= 21 |pages= 2477–83 |year= 2007 |pmid= 17102627 |doi=
*cite journal | author=Srivastava AK, Montonen O, Saarialho-Kere U, "et al." |title=Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. |journal=Am. J. Hum. Genet. |volume=58 |issue= 1 |pages= 126–32 |year= 1996 |pmid= 8554048 |doi=
*cite journal | author=Kere J, Srivastava AK, Montonen O, "et al." |title=X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. |journal=Nat. Genet. |volume=13 |issue= 4 |pages= 409–16 |year= 1996 |pmid= 8696334 |doi= 10.1038/ng0895-409
*cite journal | author=Montonen O, Ezer S, Saarialho-Kere UK, "et al." |title=The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. |journal=J. Histochem. Cytochem. |volume=46 |issue= 3 |pages= 281–9 |year= 1998 |pmid= 9487109 |doi=
*cite journal | author=Ferguson BM, Thomas NS, Munoz F, "et al." |title=Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. |journal=J. Med. Genet. |volume=35 |issue= 2 |pages= 112–5 |year= 1998 |pmid= 9507389 |doi=
*cite journal | author=Hertz JM, Nørgaard Hansen K, Juncker I, "et al." |title=A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. |journal=Clin. Genet. |volume=53 |issue= 3 |pages= 205–9 |year= 1998 |pmid= 9630076 |doi=
*cite journal | author=Monreal AW, Zonana J, Ferguson B |title=Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. |journal=Am. J. Hum. Genet. |volume=63 |issue= 2 |pages= 380–9 |year= 1998 |pmid= 9683615 |doi=
*cite journal | author=Bayés M, Hartung AJ, Ezer S, "et al." |title=The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. |journal=Hum. Mol. Genet. |volume=7 |issue= 11 |pages= 1661–9 |year= 1998 |pmid= 9736768 |doi=
*cite journal | author=Martínez F, Millán JM, Orellana C, Prieto F |title=X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg) |journal=J. Invest. Dermatol. |volume=113 |issue= 2 |pages= 285–6 |year= 1999 |pmid= 10469321 |doi= 10.1046/j.1523-1747.1999.00656.x
*cite journal | author=Ezer S, Bayés M, Elomaa O, "et al." |title=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. |journal=Hum. Mol. Genet. |volume=8 |issue= 11 |pages= 2079–86 |year= 1999 |pmid= 10484778 |doi=
*cite journal | author=Yan M, Wang LC, Hymowitz SG, "et al." |title=Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. |journal=Science |volume=290 |issue= 5491 |pages= 523–7 |year= 2000 |pmid= 11039935 |doi=
*cite journal | author=Drögemüller C, Distl O, Leeb T |title=Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24. |journal=Anim. Genet. |volume=31 |issue= 6 |pages= 416 |year= 2001 |pmid= 11167539 |doi=
*cite journal | author=Elomaa O, Pulkkinen K, Hannelius U, "et al." |title=Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. |journal=Hum. Mol. Genet. |volume=10 |issue= 9 |pages= 953–62 |year= 2001 |pmid= 11309369 |doi=
*cite journal | author=Vincent MC, Biancalana V, Ginisty D, "et al." |title=Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. |journal=Eur. J. Hum. Genet. |volume=9 |issue= 5 |pages= 355–63 |year= 2001 |pmid= 11378824 |doi= 10.1038/sj.ejhg.5200635
*cite journal | author=Chen Y, Molloy SS, Thomas L, "et al." |title=Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 13 |pages= 7218–23 |year= 2001 |pmid= 11416205 |doi= 10.1073/pnas.131076098
*cite journal | author=Sinha SK, Zachariah S, Quiñones HI, "et al." |title=Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 44953–61 |year= 2003 |pmid= 12270937 |doi= 10.1074/jbc.M207923200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Kobielak A, Kobielak K, Biedziak B, Trzeciak WH |title=A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia. |journal=Acta Biochim. Pol. |volume=50 |issue= 1 |pages= 255–8 |year= 2003 |pmid= 12673367 |doi= 035001255
*cite journal | author=Zhang XJ, Chen JJ, Song YX, "et al." |title=Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia. |journal=Arch. Dermatol. Res. |volume=295 |issue= 1 |pages= 38–42 |year= 2004 |pmid= 12682853 |doi= 10.1007/s00403-003-0394-7
*cite journal | author=Nishibu A, Hashiguchi T, Yotsumoto S, "et al." |title=A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia. |journal=Dermatology (Basel) |volume=207 |issue= 2 |pages= 178–81 |year= 2004 |pmid= 12920369 |doi= 10.1159/000071790PBB_Controls
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