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NEDEHCC
Chr 2ARlunapark, ER junction formation factor
Also known as: KIAA1715, LNP, LNP1, NEDEHCC, Ul, ulnaless
The protein enables identical protein binding and maintains the endoplasmic reticulum tubular network organization. Mutations cause a neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, inherited in an autosomal recessive pattern. This condition primarily affects the central nervous system with structural brain abnormalities and seizures.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDEHCC?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
NEDEHCC · 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 NEDEHCC
External Resources
Links to major genomics databases and tools