Bio Background |
This gene encodes 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. |
Bio References |
Bailey, S.D., et al. Diabetes Care (2010) In press :Tolosa, A., et al. BMC Med. Genet. 11, 114 (2010) :Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :Stroud, J.C., et al. Structure 14(1):159-166(2006)Gauthier, J., et al. Am. J. Med. Genet. A 118A (2), 172-175 (2003) : |