MXD4

Chr 4

MAX dimerization protein 4

Also known as: MAD4, MST149, MSTP149, bHLHc12

NCBI Gene: 10608 ENSG00000123933 UniProt: Q14582

The MXD4 protein is a transcriptional repressor that heterodimerizes with MAX protein to form DNA-binding complexes, antagonizing MYC transcriptional activity and suppressing cell transformation. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene shows high constraint against loss-of-function variants, suggesting that even single functional copies may be insufficient for normal development.

ResearchSummary from RefSeq, UniProt

This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429