ZNF24
Chr 18zinc finger protein 24
Also known as: KOX17, RSG-A, ZNF191, ZSCAN3, Zfp191
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
78 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 40 | 0 | 40 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 29 | 1 | 0 | 30 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 29 | 45 | 0 | 74 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF24 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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