MELTF
Chr 3melanotransferrin
Also known as: CD228, MAP97, MFI2, MTF1, MTf
This protein is a cell-surface glycoprotein that binds and transports iron into cells, with structural similarity to the transferrin family of iron-binding proteins. Mutations cause melanotransferrin deficiency, which is inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants, suggesting complete loss may be tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
155 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 84 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 30 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 1 |
Conflicting | — | 1 | |||
| Total | — | 119 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MELTF · 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