MXD3
Chr 5MAX dimerization protein 3
Also known as: BHLHC13, MAD3, MYX
The protein functions as a transcriptional repressor that forms heterodimers with MAX to bind E-box DNA sequences and regulate gene expression, antagonizing MYC transcriptional activity. Mutations cause autosomal dominant intellectual disability with variable features that may include developmental delay and behavioral abnormalities. The gene shows tolerance to loss-of-function variants (low constraint), suggesting the clinical phenotype may result from altered protein function rather than simple protein loss.
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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
130 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 | 53 | 0 | 53 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 45 | 8 | 0 | 53 |
Likely Benign | 0 | 5 | 1 | 1 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 50 | 68 | 1 | 119 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MXD3 · 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