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  • Molecular assay reagents intended to identify mutations in the ectodysplasin A receptor (EDAR) gene, located at chromosome 2q11-q13, which encodes for a protein that acts as a receptor for EDA isoform A1. This interaction is responsible for critical chemical signaling pathways controlling interactions between the ectoderm and mesoderm in embryos. Other reports suggest a role in caspase-independent cell death. Mutations at this locus have been identified in children with early-onset hypohidrotic ectodermic dysplasia (HED).
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