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
NEDHSB
Chr 4ARAAA ATPase AFG2A
Also known as: AFG2, EHLMRS, NEDHSB, SPAF, SPATA5
The protein is an ATPase family member with a mitochondrial targeting sequence that maintains mitochondrial function and integrity. Biallelic mutations cause a neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities with autosomal recessive inheritance. This multisystem condition affects the central nervous system and auditory system, reflecting the protein's role in mitochondrial maintenance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDHSB?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
NEDHSB · 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