ANKRD46
Chr 8ankyrin repeat domain 46
Also known as: ANK-S, GENX-115279
This gene encodes a protein containing multiple ankyrin repeats that mediate protein-protein interactions in various cellular processes. Mutations cause autosomal recessive intellectual disability with seizures and spastic paraplegia. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.597), consistent with its role in neurodevelopmental disorders.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ANKRD46 · 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