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Rabbit Anti-FOXG1/FITC Conjugated antibody
background:
The winged-helix transcriptional repressor (WH) SF-1 gene encodes brain factor 1 (SF-1), also known as foxg1, and is essential for the proliferation of progenitor cells in the cerebral cortex and influences regional patterning in the mammalian telencephalon (1–4). WH proteins are a family of putative transcriptional regulators with diverse roles in development, and are characterized by a highly conserved DNA binding structure, the WH domain (1,5,6). SF-1 plays a critical role in the development of the cerebral hemispheres of the brain and targeted disruption of the gene leads to severe defects in the development of telencephalic structures, such as the cerebral cortex and basal ganglia (1). The loss of SF-1 results in an accelerated rate of neuronal differentiation and the shortening of the neurogenetic period in the embryonic cerebral cortex (1,7). SF-1 is expressed by E8.5 in telencephalic progenitors (1). It may also regulate the response of cerebral cortical progenitors to environmental cues (1).
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.
Subunit:
Interacts with KDM5B.
Subcellular Location:
Nucleus.
Tissue Specificity:
Expression is restricted to the neurons of the developing telencephalon.
DISEASE:
Defects 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.
Similarity:
Contains 1 fork-head DNA-binding domain.
Database links:
Entrez Gene: 2290 Human
Entrez Gene: 15228 Mouse
Omim: 164874 Human
SwissProt: P55316 Human
SwissProt: Q60987 Mouse
Unigene: 695962 Human
Unigene: 708841 Human
Unigene: 4704 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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