The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1.25 µg/ml. Detects a band of approximately 63 kDa (predicted molecular weight: 50 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionTranscription 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.
Tissue specificityExpression is restricted to the neurons of the developing telencephalon.
Involvement in diseaseDefects in FOXG1 are the cause of congenital variant of Rett syndrome (RTTCV) [MIM:613454]. RTTCV is 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, mental retardation, psychomotor regression and stereotypical movements.