MTF1
Chr 1metal regulatory transcription factor 1
Also known as: MTF-1, ZRF
This gene encodes a transcription factor that regulates metallothionein expression and metal homeostasis in response to heavy metals, and also binds to promoters of genes encoding central nervous system proteolipid proteins. The gene is highly constrained against loss-of-function variants (pLI 0.97, LOEUF 0.32), suggesting mutations would likely cause severe developmental phenotypes. However, no specific disease associations or inheritance patterns have been established for this gene based on the provided information.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
94 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 | 4 | 0 | 4 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 1 | 60 | 3 | 0 | 64 |
Likely Benign | 0 | 3 | 1 | 4 | 8 |
Benign | 0 | 2 | 0 | 1 | 3 |
| Total | 1 | 65 | 9 | 5 | 80 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTF1 · 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