MITD1
Chr 2microtubule interacting and trafficking domain containing 1
The protein regulates ESCRT-III complex activity and is required for efficient abscission during cytokinesis, the final step of cell division where daughter cells separate. Mutations cause mitochondrial DNA depletion syndrome, which typically presents in infancy or early childhood with multisystem involvement including liver dysfunction, muscle weakness, and neurological deterioration, following autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with recessive disease manifestation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
171 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 | 1 | 12 | 0 | 13 |
Likely Pathogenic | 0 | 3 | 7 | 0 | 10 |
VUS | 3 | 92 | 7 | 0 | 102 |
Likely Benign | 0 | 2 | 3 | 19 | 24 |
Benign | 0 | 1 | 4 | 4 | 9 |
Conflicting | — | 7 | |||
| Total | 3 | 99 | 33 | 23 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MITD1 · 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