CREG1

Chr 1

cellular repressor of E1A stimulated genes 1

Also known as: CREG

NCBI Gene: 8804 ENSG00000143162 UniProt: O75629 OMIM: 618055

The protein encoded by CREG1 contributes to transcriptional control of cell growth and differentiation by antagonizing cellular transformation and interacting with IGF2R. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and brain malformations. This gene shows tolerance to loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.51

LOEUF

Mechanism· predicted