MXD3

Chr 5

MAX dimerization protein 3

Also known as: BHLHC13, MAD3, MYX

NCBI Gene: 83463 ENSG00000213347 UniProt: Q9BW11

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.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.21

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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