Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
NEDHILD
Chr 13ADchromosome alignment maintaining phosphoprotein 1
Also known as: C13orf8, CAMP, CHAMP, MRD40, NEDHILD, ZNF828
This gene encodes a zinc finger protein that regulates chromosome segregation during mitosis by ensuring correct chromosome alignment on the metaphase plate and maintaining proper sister kinetochore attachment to opposing spindle poles. Mutations cause an autosomal dominant neurodevelopmental disorder characterized by hypotonia, impaired language development, and dysmorphic features. The condition follows autosomal dominant inheritance with neurodevelopmental impacts apparent early in life.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHILD?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
NEDHILD · 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 open access results found
External Resources
Links to major genomics databases and tools