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Gene : EDA Homo sapiens

Name  ? ectodysplasin A Cytological Location  Xq13.1
Brief Description  ectodysplasin A
Description  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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • EDA2,
  • HED1,
  • ED1-A1,
  • EDA-A2,
  • ED1,
  • uc004dxr.4,
  • XHED,
  • TNLG7C,
  • ODT1,
  • EDA-A2,
  • OTTHUMG00000021764,
  • HGNC:3157,
  • ED1,
  • ODT1,
  • ED1-A1,
  • ED1-A2,
  • U59227,
  • oligodontia 1,
  • NM_001399,
  • ectodermal dysplasia 1, anhidrotic,
  • EDA-A1,
  • ED1-A2,
  • EDA2,
  • STHAGX1,
  • EDA1,
  • XLHED,
  • HED,
  • ECTD1,
  • EDA-A1,
  • HED,
  • XHED,
  • XLHED,
  • EDA1,
  • EDA
  • identifiers:
  • 1896,
  • ENSG00000158813,
  • EDA

Genome feature

Region: gene ? Length: 423387  
Location: X:69616086-70039472 Cyto location: Xq13.1


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Disease

2 Diseases

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Expression

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3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results