Immunogen sequence: AQQLVFQQQL LQMQQLQQQQ HLLSLQRQGL ISIPPGQAAL PVQSLPQAGL SPAEIQQLWK EVTGVHSMED NGIKHGGLDL TTNNSSSTTS SNTSKASPPI THHS
This gene encodes a member of the forkhead/winged-helix 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 , also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.
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Protein Aliases: CAG repeat protein 44; CAGH44; Forkhead box protein P2; forkhead/winged-helix transcription factor; SPCH1; TNRC10; trinucleotide repeat containing 10; Trinucleotide repeat-containing gene 10 protein
Gene Aliases: 2810043D05Rik; AI449000; CAG-16; CAGH44; D0Kist7; FOXP2; SPCH1; TNRC10