NEDSIL
Chr 14ARJNK1/MAPK8 associated membrane protein
Also known as: C14orf100, C24orf100, CDA06, HSPC213, HSPC327, JAMP, NEDSIL
NEDSIL encodes a protein that enables ubiquitin protein ligase binding and functions in the endoplasmic reticulum-associated degradation (ERAD) pathway at the ER membrane. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with seizures and impaired intellectual and language development. This represents a neurodevelopmental condition affecting cognition, language acquisition, and seizure control.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDSIL?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
NEDSIL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 NEDSIL
External Resources
Links to major genomics databases and tools