EDA (gene)

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Ectodysplasin A
PDB rendering based on 1rj7.
Available structures: 1rj7, 1rj8
Identifiers
Symbol(s) EDA; ED1; ED1-A1; ED1-A2; EDA1; EDA2; HED; XHED; XLHED
External IDs OMIM: 300451 MGI: 1195272 HomoloGene: 68180
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1896 13607
Ensembl ENSG00000158813 n/a
Uniprot Q92838 n/a
Refseq NM_001005609 (mRNA)
NP_001005609 (protein)		 NM_010099 (mRNA)
NP_034229 (protein)
Location Chr X: 68.75 - 69.18 Mb n/a
Pubmed search [1] [2]

Ectodysplasin A, also known as EDA, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: EDA ectodysplasin A.

[edit] Further reading

  • Cui CY, Schlessinger D (2007). "EDA signaling and skin appendage development.". Cell Cycle 5 (21): 2477–83. PMID 17102627. 
  • Srivastava AK, Montonen O, Saarialho-Kere U, et al. (1996). "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. PMID 8554048. 
  • Kere J, Srivastava AK, Montonen O, et al. (1996). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.". Nat. Genet. 13 (4): 409–16. doi:10.1038/ng0895-409. PMID 8696334. 
  • Montonen O, Ezer S, Saarialho-Kere UK, et al. (1998). "The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone.". J. Histochem. Cytochem. 46 (3): 281–9. PMID 9487109. 
  • Ferguson BM, Thomas NS, Munoz F, et al. (1998). "Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.". J. Med. Genet. 35 (2): 112–5. PMID 9507389. 
  • Hertz JM, Nørgaard Hansen K, Juncker I, et al. (1998). "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. PMID 9630076. 
  • Monreal AW, Zonana J, Ferguson B (1998). "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. PMID 9683615. 
  • Bayés M, Hartung AJ, Ezer S, et al. (1998). "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. PMID 9736768. 
  • Martínez F, Millán JM, Orellana C, Prieto F (1999). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)". J. Invest. Dermatol. 113 (2): 285–6. doi:10.1046/j.1523-1747.1999.00656.x. PMID 10469321. 
  • Ezer S, Bayés M, Elomaa O, et al. (1999). "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. PMID 10484778. 
  • Yan M, Wang LC, Hymowitz SG, et al. (2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors.". Science 290 (5491): 523–7. PMID 11039935. 
  • Drögemüller C, Distl O, Leeb T (2001). "Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24.". Anim. Genet. 31 (6): 416. PMID 11167539. 
  • Elomaa O, Pulkkinen K, Hannelius U, et al. (2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.". Hum. Mol. Genet. 10 (9): 953–62. PMID 11309369. 
  • Vincent MC, Biancalana V, Ginisty D, et al. (2001). "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.". Eur. J. Hum. Genet. 9 (5): 355–63. doi:10.1038/sj.ejhg.5200635. PMID 11378824. 
  • Chen Y, Molloy SS, Thomas L, et al. (2001). "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. doi:10.1073/pnas.131076098. PMID 11416205. 
  • Sinha SK, Zachariah S, Quiñones HI, et al. (2003). "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. doi:10.1074/jbc.M207923200. PMID 12270937. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Kobielak A, Kobielak K, Biedziak B, Trzeciak WH (2003). "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. doi:035001255. PMID 12673367. 
  • Zhang XJ, Chen JJ, Song YX, et al. (2004). "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.". Arch. Dermatol. Res. 295 (1): 38–42. doi:10.1007/s00403-003-0394-7. PMID 12682853. 
  • Nishibu A, Hashiguchi T, Yotsumoto S, et al. (2004). "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia.". Dermatology (Basel) 207 (2): 178–81. doi:10.1159/000071790. PMID 12920369. 
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