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NEDSSCC
Chr 12ARHECT domain E3 ubiquitin protein ligase 4
Also known as: C12ord51, C12orf51, HEEL, NEDSSCC, POTAGE
This protein functions as a ubiquitin-protein transferase involved in glucose homeostasis and metabolism. Autosomal recessive mutations cause a neurodevelopmental disorder characterized by seizures, spasticity, and complete or partial agenesis of the corpus callosum, affecting the central nervous system and brain development.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSSCC?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
NEDSSCC · 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 NEDSSCC
External Resources
Links to major genomics databases and tools