UTF1

Chr 10

undifferentiated embryonic cell transcription factor 1

NCBI Gene: 8433 ENSG00000171794 UniProt: Q5T230

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.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]

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

1.34

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429