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This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0002053 [positive regulation of mesenchymal cell proliferation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007519 [skeletal muscle tissue development] GO:0009791 [post-embryonic development] GO:0021549 [cerebellum development] GO:0021757 [caudate nucleus development] GO:0021758 [putamen development] GO:0021987 [cerebral cortex development] GO:0030324 [lung development] GO:0040007 [growth] GO:0042297 [vocal learning] GO:0042803 [protein homodimerization activity] GO:0043010 [camera-type eye development] GO:0043565 [sequence-specific DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0046872 [metal ion binding] GO:0046982 [protein heterodimerization activity] GO:0048286 [lung alveolus development] GO:0048745 [smooth muscle tissue development] GO:0050679 [positive regulation of epithelial cell proliferation] GO:0060013 [righting reflex] GO:0060501 [positive regulation of epithelial cell proliferation involved in lung morphogenesis]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)