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NEDAHM
Chr 1ARsmall vasohibin binding protein
Also known as: CCDC23, NEDAHM, SPG94
The NEDAHM protein enables microtubule binding and peptidase activator activity, and is involved in axon development and regulation of metallopeptidase activity. Mutations cause neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, inherited in an autosomal recessive pattern. This disorder affects the central nervous system with prominent motor and developmental features.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDAHM?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDAHM · 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 →No publications found for NEDAHM
External Resources
Links to major genomics databases and tools