AFG2A
Chr 4ARAAA ATPase AFG2A
Also known as: AFG2, EHLMRS, NEDHSB, SPAF, SPATA5
AFG2A encodes an ATP-dependent chaperone that is part of a chromatin-associated complex essential for DNA replication fork progression, genome stability, and ribosomal particle maturation. Biallelic mutations cause a neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities with autosomal recessive inheritance. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AFG2A · 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 →External Resources
Links to major genomics databases and tools