ADAM23
Chr 2ADAM metallopeptidase domain 23
Also known as: MDC-3, MDC3
ADAM23 encodes a non-catalytic membrane-anchored metalloprotease involved in cell-cell and cell-matrix interactions during neurogenesis and muscle development. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations. The phenotype involves the central nervous system with early childhood onset of developmental delays and epilepsy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADAM23 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools