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NEDHLS
Chr 15ARAAA ATPase AFG2B
Also known as: DFNB119, NEDHLS, SPATA5L1
NEDHLS enables protein binding and preribosome binding activities and is involved in ribosomal large subunit biogenesis. Mutations cause a neurodevelopmental disorder with hearing loss and spasticity, inherited in an autosomal recessive pattern. The disorder affects both the nervous system and auditory function, reflecting the protein's essential role in ribosome assembly.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHLS?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
NEDHLS · 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