UTF1
Chr 10undifferentiated embryonic cell transcription factor 1
This protein is a leucine zipper-containing transcriptional coactivator that links the upstream activator ATF2 with the basal transcription complex and is required for proper differentiation of embryonic stem cells, being found nearly exclusively in pluripotent cells. Mutations in this gene cause microcephaly with simplified gyral pattern, abnormal lung lobation, and immunodeficiency (MCSZ), which follows an autosomal recessive inheritance pattern. This severe neurodevelopmental disorder affects the brain, lungs, and immune system with onset in early infancy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UTF1 · 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