DMBX1
Chr 1diencephalon/mesencephalon homeobox 1
Also known as: Atx, MBX, OTX3, PAXB
The protein functions as a transcriptional repressor required for brain development, including repression of OTX2-mediated transactivation through heterodimer formation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting brain and sensory organ development. The gene is highly constrained against loss-of-function variants (pLI 0.93, LOEUF 0.37), indicating critical developmental importance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DMBX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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