Also known as ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2
protein-coding gene in the species Homo sapiens
Gene data
EDA- Name
- ectodysplasin A
- Type
- protein-coding
- Chromosome
- X
- Position
- 69,616,067–70,039,472 (+)
- Aliases
- ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1
- Ensembl
- ENSG00000158813
- RefSeq RNA
- NM_001005609.2, NM_001005610.4, NM_001005611.1, NM_001005612.3, NM_001005613.4
- RefSeq protein
- NP_001005609.1, NP_001005610.2, NP_001005612.2, NP_001005613.1, NP_001390.1
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. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
ectodysplasin A
- Symbol
- EDA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:69,616,067-70,039,472
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI