EDA ectodysplasin A
Gene ID: 1896, updated on 28-Oct-2024Gene type: protein coding
Also known as: ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1
- See all available tests in GTR for this gene
- Go to complete Gene record for EDA
- Go to Variation Viewer for EDA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. GeneReviews: Not available | |
| Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. GeneReviews: Not available | |
| Hypohidrotic X-linked ectodermal dysplasia | See labs |
| Tooth agenesis, selective, X-linked, 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-01-25) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq13.1
- Sequence:
- Chromosome: X; NC_000023.11 (69616113..70039472)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EDA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EDA @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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