AHCTF1
Chr 1AT-hook containing transcription factor 1
Also known as: ELYS, MST108, MSTP108, TMBS62
The protein is required for nuclear pore complex assembly and completion of cytokinesis by binding to chromatin and recruiting nuclear pore subcomplexes. Mutations cause autosomal dominant neurodevelopmental disorder with language impairment and behavioral abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that even heterozygous disruption can cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Tolerant to missense variation
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AHCTF1 · 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