|Other Names||Forkhead box protein P2, CAG repeat protein 44, Trinucleotide repeat-containing gene 10 protein, FOXP2, CAGH44, TNRC10|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Transcriptional repressor that may play a role in the specification and differentiation of lung epithelium. May also play a role in developing neural, gastrointestinal and cardiovascular tissues. Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential. Plays a role in synapse formation by regulating SRPX2 levels. Involved in neural mechanisms mediating the development of speech and language.|
|Tissue Location||Isoform 1 and isoform 6 are expressed in adult and fetal brain, caudate nucleus and lung|
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FOXP2 is a member of the forkhead/winged-helix(FOX) family of transcription factors. It is expressed in fetal andadult brain as well as in several other organs such as the lung andgut. The protein product contains a FOX DNA-binding domain and alarge polyglutamine tract and is an evolutionarily conservedtranscription factor, which may bind directly to approximately 300to 400 gene promoters in the human genome to regulate theexpression of a variety of genes. This gene is required for properdevelopment of speech and language regions of the brain duringembryogenesis, and may be involved in a variety of biologicalpathways and cascades that may ultimately influence languagedevelopment. Mutations in this gene cause speech-language disorder1 (SPCH1), also known as autosomal dominant speech and languagedisorder with orofacial dyspraxia. Multiple alternative transcriptsencoding different isoforms have been identified in this gene.
Lai, C.S., et al. Nature 413(6855):519-523(2001)Lai, C.S., et al. Am. J. Hum. Genet. 67(2):357-368(2000)Margolis, R.L., et al. Hum. Genet. 100(1):114-122(1997)Hurst, J.A., et al. Dev Med Child Neurol 32(4):352-355(1990)
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