AHCTF1

Chr 1

AT-hook containing transcription factor 1

Also known as: ELYS, MST108, MSTP108, TMBS62

NCBI Gene: 25909 ENSG00000153207 UniProt: Q8WYP5

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.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity. Involved in nuclear pore complex assembly and regulation of cytokinesis. Located in chromosome; nuclear body; and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.13

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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