ZNHIT3
Chr 17ARzinc finger HIT-type containing 3
Also known as: Hit1, PEHO, TRIP3
The protein enables nuclear thyroid hormone receptor binding and is involved in ribosomal RNA processing and small nucleolar RNA assembly. Mutations cause PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy), a severe early-onset neurodevelopmental disorder with characteristic brain imaging findings, seizures, and visual impairment. Inheritance is autosomal recessive.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
226 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 | 101 | 0 | 101 |
Likely Pathogenic | 0 | 2 | 13 | 0 | 15 |
VUS | 3 | 68 | 6 | 0 | 77 |
Likely Benign | 0 | 3 | 1 | 7 | 11 |
Benign | 1 | 1 | 2 | 1 | 5 |
| Total | 4 | 74 | 123 | 8 | 209 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNHIT3 · 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