ZNF24

Chr 18

zinc finger protein 24

Also known as: KOX17, RSG-A, ZNF191, ZSCAN3, Zfp191

NCBI Gene: 7572 ENSG00000172466 UniProt: P17028 OMIM: 194534

This transcription factor is required for oligodendrocyte myelination and the conversion from premyelinating to myelinating states in the central nervous system. Mutations cause autosomal dominant neurodevelopmental disorders affecting white matter and myelination. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), indicating that haploinsufficiency is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription activator activity, RNA polymerase II-specific; identical protein binding activity; and sequence-specific DNA binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.30

LOEUF· LoF intol.

—

Mechanism