FOXG1
Function
Transcription repression factor which plays an important role in the establishment of the regional subdivision of the developing brain and in the development of the telencephalon.
Involvement in disease
Rett syndrome congenital variant
RTTCV
A severe neurodevelopmental disorder with features of classic Rett syndrome but earlier onset in the first months of life. Clinical features include progressive microcephaly, hypotonia, irresponsiveness and irritability in the neonatal period, intellectual disability, psychomotor regression and stereotypical movements.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expression is restricted to the neurons of the developing telencephalon.
Cellular localization
- Nucleus
Alternative names
FKH2, FKHL1, FKHL2, FKHL3, FKHL4, FOXG1A, FOXG1B, FOXG1C, FOXG1, Forkhead box protein G1, Brain factor 1, Brain factor 2, Forkhead box protein G1A, Forkhead box protein G1B, Forkhead box protein G1C, Forkhead-related protein FKHL1, Forkhead-related protein FKHL2, Forkhead-related protein FKHL3, BF-1, BF1, BF-2, BF2, hBF-2, HFK1, HFK2, HFK3