TOE1
Function
Inhibits cell growth rate and cell cycle. Induces CDKN1A expression as well as TGF-beta expression. Mediates the inhibitory growth effect of EGR1. Involved in the maturation of snRNAs and snRNA 3'-tail processing (PubMed:28092684).
Involvement in disease
Pontocerebellar hypoplasia 7
PCH7
A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CAF1 family.
Tissue Specificity
Widely expressed.
Cellular localization
- Nucleus
- Nucleolus
- Nucleus speckle
- Localizes to nuclear speckles.
Alternative names
Target of EGR1 protein 1, TOE1